lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3914
Symbol	LAMB3
Synonymous	AI1A\|BM600-125KDA\|LAM5\|LAMNB1
Full name	laminin, beta 3
Gene description	epiligrin subunit bata\|kalinin B1 chain\|kalinin subunit beta\|kalinin-140kDa\|laminin B1k chain\|laminin S B3 chain\|laminin subunit beta-3\|laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))\|laminin-5 subunit beta\|nicein subunit beta\|nicein-125k
Cytoband	1q32
Gene type	protein-coding
Synonymous	MIM:150310; HGNC:HGNC:6490; Ensembl:ENSG00000196878; HPRD:01032; Vega:OTTHUMG00000036360

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.975T>C; p.C325C; 1:209629894-209629894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036T>G; p.C346G; 1:209629833-209629833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464C>T; p.S488S; 1:209627404-209627404	skin	malignant_melanoma	Substitution - coding silent
c.2132C>T; p.P711L; 1:209623845-209623845	skin	malignant_melanoma	Substitution - Missense
c.1004G>T; p.S335I; 1:209629865-209629865	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1095C>G; p.N365K; 1:209629774-209629774	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2282_2283insAGG; p.G761_T762insG; 1:209623580-209623581	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.601C>T; p.P201S; 1:209633097-209633097	skin	malignant_melanoma	Substitution - Missense
c.1023T>C; p.G341G; 1:209629846-209629846	liver	carcinoma	Substitution - coding silent
c.916G>A; p.E306K; 1:209630642-209630642	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1734C>T; p.C578C; 1:209625890-209625890	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2855_2856CC>TT; p.T952I; 1:209618505-209618506	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2647G>T; p.E883*; 1:209622590-209622590	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2544G>A; p.R848R; 1:209622994-209622994	skin	malignant_melanoma	Substitution - coding silent
c.3282G>A; p.Q1094Q; 1:209616571-209616571	skin	malignant_melanoma	Substitution - coding silent
c.515G>A; p.R172Q; 1:209634496-209634496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2013G>A; p.L671L; 1:209623964-209623964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3059A>C; p.Q1020P; 1:209617579-209617579	kidney	other; neoplasm	Substitution - Missense
c.2013G>A; p.L671L; 1:209623964-209623964	skin; arm	malignant_melanoma	Substitution - coding silent
c.1982C>T; p.T661I; 1:209623995-209623995	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.R366Q; 1:209629772-209629772	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1104G>A; p.P368P; 1:209629765-209629765	breast	carcinoma	Substitution - coding silent
c.3403C>T; p.R1135W; 1:209615387-209615387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2360T>G; p.L787R; 1:209623178-209623178	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2687G>A; p.R896Q; 1:209622550-209622550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765G>A; p.D589N; 1:209625859-209625859	skin	malignant_melanoma	Substitution - Missense
c.3420C>T; p.I1140I; 1:209615370-209615370	skin	malignant_melanoma	Substitution - coding silent
c.2366G>A; p.G789D; 1:209623172-209623172	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.810C>T; p.S270S; 1:209632595-209632595	skin	malignant_melanoma	Substitution - coding silent
c.2802G>A; p.E934E; 1:209618559-209618559	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242G>A; p.K414K; 1:209628081-209628081	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2479G>A; p.G827R; 1:209623059-209623059	skin	malignant_melanoma	Substitution - Missense
c.773G>A; p.R258H; 1:209632632-209632632	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2332C>A; p.P778T; 1:209623531-209623531	lung	carcinoma	Substitution - Missense
c.2523C>T; p.G841G; 1:209623015-209623015	skin	malignant_melanoma	Substitution - coding silent
c.1100G>A; p.R367H; 1:209629769-209629769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.R367H; 1:209629769-209629769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1100G>A; p.R367H; 1:209629769-209629769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.R367H; 1:209629769-209629769	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.R367H; 1:209629769-209629769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3193G>T; p.E1065*; 1:209617445-209617445	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.204G>A; p.K68K; 1:209638628-209638628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3004C>A; p.Q1002K; 1:209617954-209617954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3442A>T; p.T1148S; 1:209615348-209615348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2731G>A; p.E911K; 1:209618630-209618630	skin	malignant_melanoma	Substitution - Missense
c.948C>T; p.C316C; 1:209629921-209629921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.528G>T; p.L176L; 1:209634483-209634483	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2032C>T; p.L678F; 1:209623945-209623945	skin; scalp	malignant_melanoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441G>T; p.Q147H; 1:209634570-209634570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2478T>G; p.G826G; 1:209623060-209623060	breast	carcinoma	Substitution - coding silent
c.472C>T; p.P158S; 1:209634539-209634539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.P158S; 1:209634539-209634539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.P158S; 1:209634539-209634539	large_intestine; colon	carcinoma	Substitution - Missense
c.472C>T; p.P158S; 1:209634539-209634539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.351A>C; p.Q117H; 1:209637929-209637929	skin	malignant_melanoma	Substitution - Missense
c.307C>T; p.P103S; 1:209637973-209637973	skin	malignant_melanoma	Substitution - Missense
c.475C>T; p.R159W; 1:209634536-209634536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.307C>T; p.P103S; 1:209637973-209637973	skin	malignant_melanoma	Substitution - Missense
c.1247G>T; p.G416V; 1:209628076-209628076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.384C>T; p.P128P; 1:209634627-209634627	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.384C>T; p.P128P; 1:209634627-209634627	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1976G>T; p.R659M; 1:209625648-209625648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2432G>A; p.G811D; 1:209623106-209623106	skin; abdomen	malignant_melanoma	Substitution - Missense
c.384C>T; p.P128P; 1:209634627-209634627	thyroid	other; neoplasm	Substitution - coding silent
c.3432A>G; p.S1144S; 1:209615358-209615358	thyroid	other; neoplasm	Substitution - coding silent
c.2906C>T; p.A969V; 1:209618455-209618455	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>A; p.R660Q; 1:209623998-209623998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>A; p.R660Q; 1:209623998-209623998	skin	malignant_melanoma	Substitution - Missense
c.2361C>A; p.L787L; 1:209623177-209623177	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3417C>T; p.A1139A; 1:209615373-209615373	skin	malignant_melanoma	Substitution - coding silent
c.805C>T; p.P269S; 1:209632600-209632600	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3414G>A; p.Q1138Q; 1:209615376-209615376	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3417C>T; p.A1139A; 1:209615373-209615373	skin	malignant_melanoma	Substitution - coding silent
c.2480G>T; p.G827V; 1:209623058-209623058	skin	malignant_melanoma	Substitution - Missense
c.1778G>T; p.R593L; 1:209625846-209625846	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1522G>A; p.G508S; 1:209626942-209626942	skin; extremity	malignant_melanoma	Substitution - Missense
c.3404G>A; p.R1135Q; 1:209615386-209615386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>C; p.K188N; 1:209634447-209634447	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2467C>T; p.P823S; 1:209623071-209623071	skin	malignant_melanoma	Substitution - Missense
c.107G>A; p.G36E; 1:209650040-209650040	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>T; p.F139F; 1:209634594-209634594	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1748C>T; p.P583L; 1:209625876-209625876	skin	malignant_melanoma	Substitution - Missense
c.3490C>T; p.R1164C; 1:209615300-209615300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2836G>A; p.D946N; 1:209618525-209618525	skin	malignant_melanoma	Substitution - Missense
c.226A>C; p.N76H; 1:209638606-209638606	liver	carcinoma	Substitution - Missense
c.734G>A; p.R245H; 1:209632671-209632671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.734G>A; p.R245H; 1:209632671-209632671	breast	carcinoma	Substitution - Missense
c.734G>A; p.R245H; 1:209632671-209632671	prostate	carcinoma	Substitution - Missense
c.2571G>A; p.E857E; 1:209622666-209622666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1082A>T; p.H361L; 1:209629787-209629787	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3491G>A; p.R1164H; 1:209615299-209615299	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.944-4C>T; p.?; 1:209629929-209629929	liver	carcinoma	Unknown
c.944-4C>T; p.?; 1:209629929-209629929	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2069A>G; p.N690S; 1:209623908-209623908	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2101G>A; p.E701K; 1:209623876-209623876	prostate	adenoma	Substitution - Missense
c.3160G>A; p.G1054R; 1:209617478-209617478	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1316G>A; p.R439Q; 1:209627552-209627552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2553G>A; p.Q851Q; 1:209622985-209622985	skin	malignant_melanoma	Substitution - coding silent
c.3337G>A; p.E1113K; 1:209616516-209616516	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1149G>A; p.P383P; 1:209628174-209628174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1233C>T; p.D411D; 1:209628090-209628090	skin	malignant_melanoma	Substitution - coding silent
c.1149G>A; p.P383P; 1:209628174-209628174	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1849G>A; p.D617N; 1:209625775-209625775	skin	malignant_melanoma	Substitution - Missense
c.3056A>T; p.Q1019L; 1:209617582-209617582	kidney	other; neoplasm	Substitution - Missense
c.1667G>C; p.R556P; 1:209625957-209625957	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1792C>T; p.R598C; 1:209625832-209625832	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2258_2264delTGCGGCA; p.V753fs*16; 1:209623599-209623605	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1792C>T; p.R598C; 1:209625832-209625832	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3387G>A; p.M1129I; 1:209615403-209615403	skin	malignant_melanoma	Substitution - Missense
c.3387G>A; p.M1129I; 1:209615403-209615403	skin	malignant_melanoma	Substitution - Missense
c.2020G>A; p.E674K; 1:209623957-209623957	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.E446K; 1:209627532-209627532	skin	malignant_melanoma	Substitution - Missense
c.1866C>T; p.S622S; 1:209625758-209625758	skin	malignant_melanoma	Substitution - coding silent
c.482G>A; p.R161H; 1:209634529-209634529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>G; p.T560T; 1:209625944-209625944	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.387C>T; p.A129A; 1:209634624-209634624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.43C>T; p.L15L; 1:209650104-209650104	skin	malignant_melanoma	Substitution - coding silent
c.1564C>T; p.R522W; 1:209626900-209626900	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2509G>A; p.E837K; 1:209623029-209623029	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>T; p.R522W; 1:209626900-209626900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.937T>A; p.C313S; 1:209630621-209630621	skin	malignant_melanoma	Substitution - Missense
c.3064C>T; p.L1022L; 1:209617574-209617574	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.514C>T; p.R172W; 1:209634497-209634497	skin	malignant_melanoma	Substitution - Missense
c.1601G>A; p.C534Y; 1:209626023-209626023	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1288C>T; p.R430C; 1:209628035-209628035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2024C>T; p.T675M; 1:209623953-209623953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.946T>C; p.C316R; 1:209629923-209629923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>A; p.D344N; 1:209629839-209629839	breast	carcinoma	Substitution - Missense
c.2447_2448CC>TT; p.S816F; 1:209623090-209623091	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1986C>G; p.L662L; 1:209623991-209623991	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3304G>T; p.G1102C; 1:209616549-209616549	skin	malignant_melanoma	Substitution - Missense
c.2625C>T; p.S875S; 1:209622612-209622612	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.3437A>G; p.D1146G; 1:209615353-209615353	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.988G>A; p.A330T; 1:209629881-209629881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1225C>T; p.R409C; 1:209628098-209628098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3011C>T; p.T1004I; 1:209617947-209617947	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1858C>A; p.L620M; 1:209625766-209625766	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2612A>T; p.E871V; 1:209622625-209622625	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2128G>A; p.D710N; 1:209623849-209623849	prostate	adenoma	Substitution - Missense
c.709G>A; p.A237T; 1:209632696-209632696	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.709G>A; p.A237T; 1:209632696-209632696	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2767A>G; p.T923A; 1:209618594-209618594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.R292C; 1:209630684-209630684	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.874C>T; p.R292C; 1:209630684-209630684	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.778G>A; p.A260T; 1:209632627-209632627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2242G>A; p.E748K; 1:209623621-209623621	skin	malignant_melanoma	Substitution - Missense
c.3352G>A; p.E1118K; 1:209616501-209616501	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3433G>A; p.A1145T; 1:209615357-209615357	bone; femur	chondrosarcoma	Substitution - Missense
c.2293C>T; p.P765S; 1:209623570-209623570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2317G>A; p.E773K; 1:209623546-209623546	skin	malignant_melanoma	Substitution - Missense
c.1328C>T; p.P443L; 1:209627540-209627540	breast	carcinoma	Substitution - Missense
c.1790T>A; p.L597Q; 1:209625834-209625834	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1965C>T; p.I655I; 1:209625659-209625659	skin	malignant_melanoma	Substitution - coding silent
c.221C>A; p.P74H; 1:209638611-209638611	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1649C>T; p.S550L; 1:209625975-209625975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3017G>A; p.R1006H; 1:209617941-209617941	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3017G>A; p.R1006H; 1:209617941-209617941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1346G>A; p.G449E; 1:209627522-209627522	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3230G>A; p.G1077E; 1:209616623-209616623	skin	malignant_melanoma	Substitution - Missense
c.3191C>T; p.A1064V; 1:209617447-209617447	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.708C>T; p.S236S; 1:209632697-209632697	breast	carcinoma	Substitution - coding silent
c.2871G>A; p.A957A; 1:209618490-209618490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3037G>A; p.D1013N; 1:209617921-209617921	skin	malignant_melanoma	Substitution - Missense
c.2495C>T; p.A832V; 1:209623043-209623043	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2465T>A; p.L822H; 1:209623073-209623073	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252T>C; p.N84N; 1:209638580-209638580	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3094A>T; p.M1032L; 1:209617544-209617544	breast	carcinoma	Substitution - Missense
c.298+2T>G; p.?; 1:209638532-209638532	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2673A>G; p.L891L; 1:209622564-209622564	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3410G>T; p.S1137I; 1:209615380-209615380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1853G>A; p.R618H; 1:209625771-209625771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2912G>A; p.S971N; 1:209618046-209618046	skin	malignant_melanoma	Substitution - Missense
c.791G>A; p.G264E; 1:209632614-209632614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2131_2132CC>TT; p.P711F; 1:209623845-209623846	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565G>A; p.R522Q; 1:209626899-209626899	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3237G>A; p.E1079E; 1:209616616-209616616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3096G>A; p.M1032I; 1:209617542-209617542	breast	carcinoma	Substitution - Missense
c.911C>T; p.P304L; 1:209630647-209630647	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3349G>T; p.G1117W; 1:209616504-209616504	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1315C>T; p.R439W; 1:209627553-209627553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2295C>T; p.P765P; 1:209623568-209623568	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1919G>C; p.S640T; 1:209625705-209625705	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2072G>A; p.G691D; 1:209623905-209623905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.480C>T; p.V160V; 1:209634531-209634531	skin	malignant_melanoma	Substitution - coding silent
c.3472C>T; p.R1158C; 1:209615318-209615318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>A; p.E1056K; 1:209617472-209617472	breast	carcinoma	Substitution - Missense
c.2701+3G>T; p.?; 1:209622533-209622533	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1615C>T; p.R539W; 1:209626009-209626009	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605C>T; p.A202V; 1:209633093-209633093	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1103C>T; p.P368L; 1:209629766-209629766	skin	malignant_melanoma	Substitution - Missense
c.454G>A; p.D152N; 1:209634557-209634557	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1743C>A; p.C581*; 1:209625881-209625881	liver	carcinoma	Substitution - Nonsense
c.1743C>A; p.C581*; 1:209625881-209625881	liver	carcinoma	Substitution - Nonsense
c.1203C>G; p.C401W; 1:209628120-209628120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1762T>C; p.Y588H; 1:209625862-209625862	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3049G>C; p.E1017Q; 1:209617909-209617909	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2777C>A; p.A926D; 1:209618584-209618584	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.920G>A; p.G307D; 1:209630638-209630638	skin	malignant_melanoma	Substitution - Missense
c.986C>T; p.P329L; 1:209629883-209629883	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3177G>T; p.Q1059H; 1:209617461-209617461	pancreas	carcinoma	Substitution - Missense
c.1290C>A; p.R430R; 1:209627578-209627578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.186G>A; p.W62*; 1:209638646-209638646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.113C>T; p.T38I; 1:209650034-209650034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>T; p.S88F; 1:209638569-209638569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.471C>T; p.F157F; 1:209634540-209634540	skin	malignant_melanoma	Substitution - coding silent
c.471C>T; p.F157F; 1:209634540-209634540	skin	malignant_melanoma	Substitution - coding silent
c.1151A>G; p.D384G; 1:209628172-209628172	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2660G>A; p.R887H; 1:209622577-209622577	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1393T>C; p.C465R; 1:209627475-209627475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6A>T; p.R2S; 1:209650939-209650939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3269A>G; p.D1090G; 1:209616584-209616584	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2439C>T; p.A813A; 1:209623099-209623099	skin	malignant_melanoma	Substitution - coding silent
c.158A>T; p.E53V; 1:209649989-209649989	bone; femur	chondrosarcoma	Substitution - Missense
c.969G>T; p.E323D; 1:209629900-209629900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1698G>A; p.Q566Q; 1:209625926-209625926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2574A>C; p.E858D; 1:209622663-209622663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1550G>A; p.R517H; 1:209626914-209626914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1550G>A; p.R517H; 1:209626914-209626914	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2785C>T; p.L929L; 1:209618576-209618576	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1683G>A; p.G561G; 1:209625941-209625941	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2754C>A; p.A918A; 1:209618607-209618607	skin	malignant_melanoma	Substitution - coding silent
c.120T>A; p.F40L; 1:209650027-209650027	skin	malignant_melanoma	Substitution - Missense
c.1728G>T; p.P576P; 1:209625896-209625896	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.838G>A; p.V280I; 1:209630720-209630720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.291A>C; p.S97S; 1:209638541-209638541	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.291A>C; p.S97S; 1:209638541-209638541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.291A>C; p.S97S; 1:209638541-209638541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1099C>T; p.R367C; 1:209629770-209629770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2869G>A; p.A957T; 1:209618492-209618492	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.949G>A; p.D317N; 1:209629920-209629920	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>C; p.E61Q; 1:209649966-209649966	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3138C>T; p.L1046L; 1:209617500-209617500	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3138C>T; p.L1046L; 1:209617500-209617500	skin	malignant_melanoma	Substitution - coding silent
c.1706G>A; p.R569Q; 1:209625918-209625918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1706G>A; p.R569Q; 1:209625918-209625918	skin	malignant_melanoma	Substitution - Missense
c.258T>C; p.A86A; 1:209638574-209638574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138C>T; p.L1046L; 1:209617500-209617500	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2287G>A; p.G763S; 1:209623576-209623576	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>T; p.L360L; 1:209629791-209629791	breast	carcinoma	Substitution - coding silent
c.2073T>C; p.G691G; 1:209623904-209623904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1842G>C; p.G614G; 1:209625782-209625782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3453G>A; p.E1151E; 1:209615337-209615337	skin	malignant_melanoma	Substitution - coding silent
c.3295G>T; p.G1099C; 1:209616558-209616558	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.548G>A; p.R183H; 1:209634463-209634463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.943A>G; p.R315G; 1:209630615-209630615	skin	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183H; 1:209634463-209634463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.548G>A; p.R183H; 1:209634463-209634463	urinary_tract; bladder	carcinoma	Substitution - Missense
c.548G>A; p.R183H; 1:209634463-209634463	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2924C>T; p.A975V; 1:209618034-209618034	stomach	adenocarcinoma	Substitution - Missense
c.564+10G>A; p.?; 1:209634437-209634437	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1679C>T; p.T560I; 1:209625945-209625945	skin	malignant_melanoma	Substitution - Missense
c.2204G>A; p.S735N; 1:209623659-209623659	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1207G>T; p.E403*; 1:209628116-209628116	kidney	other; neoplasm	Substitution - Nonsense
c.2271A>G; p.G757G; 1:209623592-209623592	skin	malignant_melanoma	Substitution - coding silent
c.2058C>T; p.D686D; 1:209623919-209623919	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2872C>T; p.R958C; 1:209618489-209618489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1440G>A; p.P480P; 1:209627428-209627428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1921C>T; p.P641S; 1:209625703-209625703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3139C>T; p.R1047C; 1:209617499-209617499	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1502C>T; p.P501L; 1:209626962-209626962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1654C>T; p.R552C; 1:209625970-209625970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2208G>A; p.S736S; 1:209623655-209623655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.231C>T; p.Y77Y; 1:209638601-209638601	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1716T>C; p.C572C; 1:209625908-209625908	thyroid	other; neoplasm	Substitution - coding silent
c.1716T>C; p.C572C; 1:209625908-209625908	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3139C>T; p.R1047C; 1:209617499-209617499	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1450G>T; p.D484Y; 1:209627418-209627418	ovary	other; neoplasm	Substitution - Missense
c.2223G>A; p.Q741Q; 1:209623640-209623640	skin	malignant_melanoma	Substitution - coding silent
c.2091G>A; p.Q697Q; 1:209623886-209623886	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.797C>T; p.S266F; 1:209632608-209632608	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3157C>T; p.Q1053*; 1:209617481-209617481	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1922C>T; p.P641L; 1:209625702-209625702	skin	malignant_melanoma	Substitution - Missense
c.1457A>T; p.H486L; 1:209627411-209627411	ovary	other; neoplasm	Substitution - Missense
c.1832C>T; p.S611L; 1:209625792-209625792	skin	malignant_melanoma	Substitution - Missense
c.2633G>A; p.R878H; 1:209622604-209622604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2882G>A; p.R961Q; 1:209618479-209618479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1419C>A; p.A473A; 1:209627449-209627449	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3426G>A; p.L1142L; 1:209615364-209615364	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3371A>C; p.D1124A; 1:209616482-209616482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1632G>A; p.P544P; 1:209625992-209625992	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.772C>T; p.R258C; 1:209632633-209632633	NS	malignant_melanoma	Substitution - Missense
c.2124T>C; p.S708S; 1:209623853-209623853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.772C>T; p.R258C; 1:209632633-209632633	skin	malignant_melanoma	Substitution - Missense
c.2458G>A; p.G820S; 1:209623080-209623080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1642A>T; p.K548*; 1:209625982-209625982	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1758G>A; p.Q586Q; 1:209625866-209625866	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2720C>T; p.A907V; 1:209618641-209618641	skin	malignant_melanoma	Substitution - Missense
c.491G>A; p.R164Q; 1:209634520-209634520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>T; p.T46T; 1:209650009-209650009	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.138C>T; p.T46T; 1:209650009-209650009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.138C>T; p.T46T; 1:209650009-209650009	thyroid	other; neoplasm	Substitution - coding silent
c.1085A>G; p.Y362C; 1:209629784-209629784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3385A>G; p.M1129V; 1:209615405-209615405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.507G>A; p.Q169Q; 1:209634504-209634504	skin	malignant_melanoma	Substitution - coding silent
c.3049G>A; p.E1017K; 1:209617909-209617909	breast	carcinoma	Substitution - Missense
c.2740G>A; p.E914K; 1:209618621-209618621	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2740G>A; p.E914K; 1:209618621-209618621	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.958G>A; p.G320R; 1:209629911-209629911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1764T>C; p.Y588Y; 1:209625860-209625860	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.298G>T; p.D100Y; 1:209638534-209638534	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1579G>A; p.V527M; 1:209626885-209626885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579G>A; p.V527M; 1:209626885-209626885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2031C>T; p.S677S; 1:209623946-209623946	skin	malignant_melanoma	Substitution - coding silent
c.1861G>A; p.A621T; 1:209625763-209625763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.993G>A; p.V331V; 1:209629876-209629876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1348C>T; p.R450C; 1:209627520-209627520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348C>T; p.R450C; 1:209627520-209627520	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.541A>G; p.N181D; 1:209634470-209634470	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.370C>T; p.Q124*; 1:209637910-209637910	skin	malignant_melanoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation