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	1131
Symbol	CHRM3
Synonymous	EGBRS\|HM3
Full name	cholinergic receptor, muscarinic 3
Gene description	acetylcholine receptor, muscarinic 3\|m3 muscarinic receptor\|muscarinic acetylcholine receptor M3
Cytoband	1q43
Gene type	protein-coding
Synonymous	MIM:118494; HGNC:HGNC:1952; Ensembl:ENSG00000133019; HPRD:00329

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1312G>A; p.A438T; 1:239908763-239908763	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.880G>A; p.E294K; 1:239908331-239908331	skin	malignant_melanoma	Substitution - Missense
c.1159G>C; p.D387H; 1:239908610-239908610	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1210A>C; p.K404Q; 1:239908661-239908661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929G>A; p.R310H; 1:239908380-239908380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>C; p.D387H; 1:239908610-239908610	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.539G>A; p.R180Q; 1:239907990-239907990	pancreas; ampulla_of_Vater	carcinoma; ductal_carcinoma	Substitution - Missense
c.1692_1693insA; p.R568fs*>24; 1:239909143-239909144	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1692_1693insA; p.R568fs*>24; 1:239909143-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1692_1693insA; p.R568fs*>24; 1:239909143-239909144	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.366G>A; p.M122I; 1:239907817-239907817	breast	carcinoma	Substitution - Missense
c.1692_1693insA; p.R568fs*>24; 1:239909143-239909144	breast	carcinoma; basal_(triple-negative)_carcinoma	Insertion - Frameshift
c.1031C>A; p.A344D; 1:239908482-239908482	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>A; p.M122I; 1:239907817-239907817	skin	malignant_melanoma	Substitution - Missense
c.1592_1593GG>CT; p.W531S; 1:239909043-239909044	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>T; p.E325*; 1:239908424-239908424	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.759G>T; p.R253S; 1:239908210-239908210	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1338A>C; p.S446S; 1:239908789-239908789	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1047C>T; p.S349S; 1:239908498-239908498	skin	malignant_melanoma	Substitution - coding silent
c.69C>T; p.S23S; 1:239907520-239907520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.905G>A; p.R302H; 1:239908356-239908356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535A>G; p.K179E; 1:239907986-239907986	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.593T>C; p.V198A; 1:239908044-239908044	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.523A>G; p.T175A; 1:239907974-239907974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.612C>T; p.I204I; 1:239908063-239908063	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1052C>T; p.S351F; 1:239908503-239908503	skin	malignant_melanoma	Substitution - Missense
c.1041G>A; p.E347E; 1:239908492-239908492	skin	malignant_melanoma	Substitution - coding silent
c.1041G>A; p.E347E; 1:239908492-239908492	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.131G>A; p.R44Q; 1:239907582-239907582	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.415T>A; p.L139M; 1:239907866-239907866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.729T>A; p.P243P; 1:239908180-239908180	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.50G>C; p.S17T; 1:239907501-239907501	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.265G>A; p.V89I; 1:239907716-239907716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.V34I; 1:239907551-239907551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.V34I; 1:239907551-239907551	breast	carcinoma	Substitution - Missense
c.1191G>T; p.G397G; 1:239908642-239908642	breast	carcinoma	Substitution - coding silent
c.666C>A; p.F222L; 1:239908117-239908117	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1035C>T; p.S345S; 1:239908486-239908486	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.815G>A; p.G272E; 1:239908266-239908266	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1624G>A; p.V542M; 1:239909075-239909075	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.652C>T; p.P218S; 1:239908103-239908103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.709A>G; p.I237V; 1:239908160-239908160	central_nervous_system; brain	glioma	Substitution - Missense
c.1719C>G; p.Y573*; 1:239909170-239909170	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.959G>A; p.W320*; 1:239908410-239908410	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1527C>A; p.I509I; 1:239908978-239908978	breast	carcinoma	Substitution - coding silent
c.875G>A; p.S292N; 1:239908326-239908326	pancreas	carcinoma	Substitution - Missense
c.1425C>T; p.I475I; 1:239908876-239908876	NS	malignant_melanoma	Substitution - coding silent
c.1425C>T; p.I475I; 1:239908876-239908876	NS	malignant_melanoma	Substitution - coding silent
c.882A>G; p.E294E; 1:239908333-239908333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1520A>T; p.Y507F; 1:239908971-239908971	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1465G>T; p.A489S; 1:239908916-239908916	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1751G>A; p.R584H; 1:239909202-239909202	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1466C>T; p.A489V; 1:239908917-239908917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>C; p.G186R; 1:239908007-239908007	skin	malignant_melanoma	Substitution - Missense
c.977A>G; p.Q326R; 1:239908428-239908428	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1127C>A; p.T376N; 1:239908578-239908578	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1147T>C; p.L383L; 1:239908598-239908598	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.524C>T; p.T175M; 1:239907975-239907975	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.524C>T; p.T175M; 1:239907975-239907975	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.434T>C; p.L145P; 1:239907885-239907885	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.524C>T; p.T175M; 1:239907975-239907975	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.509T>A; p.I170N; 1:239907960-239907960	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1326C>T; p.D442D; 1:239908777-239908777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.928C>T; p.R310C; 1:239908379-239908379	breast	carcinoma	Substitution - Missense
c.1544C>T; p.T515I; 1:239908995-239908995	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1544C>T; p.T515I; 1:239908995-239908995	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.319C>T; p.L107F; 1:239907770-239907770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1159G>A; p.D387N; 1:239908610-239908610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1188G>T; p.L396L; 1:239908639-239908639	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1245C>T; p.D415D; 1:239908696-239908696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.168C>T; p.T56T; 1:239907619-239907619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.855C>A; p.G285G; 1:239908306-239908306	thyroid	carcinoma	Substitution - coding silent
c.182G>A; p.G61E; 1:239907633-239907633	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.168C>T; p.T56T; 1:239907619-239907619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.168C>T; p.T56T; 1:239907619-239907619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1750C>T; p.R584C; 1:239909201-239909201	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1316A>C; p.K439T; 1:239908767-239908767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1125C>A; p.S375R; 1:239908576-239908576	skin	malignant_melanoma	Substitution - Missense
c.397C>T; p.R133*; 1:239907848-239907848	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.397C>T; p.R133*; 1:239907848-239907848	skin	malignant_melanoma	Substitution - Nonsense
c.362C>A; p.S121*; 1:239907813-239907813	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.176C>A; p.P59H; 1:239907627-239907627	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1240G>A; p.V414M; 1:239908691-239908691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.789A>T; p.K263N; 1:239908240-239908240	pancreas	carcinoma	Substitution - Missense
c.1240G>A; p.V414M; 1:239908691-239908691	pancreas	carcinoma	Substitution - Missense
c.1167G>T; p.L389L; 1:239908618-239908618	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.297G>A; p.L99L; 1:239907748-239907748	skin	malignant_melanoma	Substitution - coding silent
c.114C>T; p.G38G; 1:239907565-239907565	ovary	other; neoplasm	Substitution - coding silent
c.114C>T; p.G38G; 1:239907565-239907565	ovary	other; neoplasm	Substitution - coding silent
c.1257T>C; p.S419S; 1:239908708-239908708	skin	malignant_melanoma	Substitution - coding silent
c.972C>T; p.S324S; 1:239908423-239908423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.200A>G; p.Q67R; 1:239907651-239907651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1619A>G; p.N540S; 1:239909070-239909070	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1306G>A; p.D436N; 1:239908757-239908757	skin	malignant_melanoma	Substitution - Missense
c.826G>A; p.E276K; 1:239908277-239908277	urinary_tract; bladder	carcinoma	Substitution - Missense
c.111C>T; p.F37F; 1:239907562-239907562	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.915G>A; p.R305R; 1:239908366-239908366	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.589T>C; p.F197L; 1:239908040-239908040	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1436A>C; p.K479T; 1:239908887-239908887	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1387C>A; p.L463M; 1:239908838-239908838	skin	malignant_melanoma	Substitution - Missense
c.1101C>T; p.I367I; 1:239908552-239908552	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.128C>A; p.S43Y; 1:239907579-239907579	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1706G>A; p.R569H; 1:239909157-239909157	prostate	carcinoma	Substitution - Missense
c.1706G>A; p.R569H; 1:239909157-239909157	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1048G>A; p.A350T; 1:239908499-239908499	pancreas	carcinoma	Substitution - Missense
c.1282C>T; p.P428S; 1:239908733-239908733	skin; arm	malignant_melanoma	Substitution - Missense
c.1282C>T; p.P428S; 1:239908733-239908733	skin; arm	malignant_melanoma	Substitution - Missense
c.477T>A; p.L159L; 1:239907928-239907928	liver	carcinoma	Substitution - coding silent
c.650C>T; p.P217L; 1:239908101-239908101	skin	malignant_melanoma	Substitution - Missense
c.904C>T; p.R302C; 1:239908355-239908355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.484A>G; p.I162V; 1:239907935-239907935	liver	carcinoma	Substitution - Missense
c.484A>G; p.I162V; 1:239907935-239907935	liver	carcinoma	Substitution - Missense
c.670C>A; p.Q224K; 1:239908121-239908121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1714C>A; p.Q572K; 1:239909165-239909165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.960G>A; p.W320*; 1:239908411-239908411	skin	malignant_melanoma	Substitution - Nonsense
c.448G>C; p.V150L; 1:239907899-239907899	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.845A>C; p.H282P; 1:239908296-239908296	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.773C>T; p.T258I; 1:239908224-239908224	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1610G>A; p.S537N; 1:239909061-239909061	skin	malignant_melanoma	Substitution - Missense
c.1759G>A; p.E587K; 1:239909210-239909210	pancreas	carcinoma	Substitution - Missense
c.1435A>G; p.K479E; 1:239908886-239908886	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1741T>A; p.F581I; 1:239909192-239909192	skin; ear	malignant_melanoma	Substitution - Missense
c.1327G>A; p.V443I; 1:239908778-239908778	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1327G>A; p.V443I; 1:239908778-239908778	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.759G>A; p.R253R; 1:239908210-239908210	skin	malignant_melanoma	Substitution - coding silent
c.1594C>A; p.L532M; 1:239909045-239909045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.954G>A; p.K318K; 1:239908405-239908405	skin	malignant_melanoma	Substitution - coding silent
c.481G>T; p.V161F; 1:239907932-239907932	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.769G>A; p.E257K; 1:239908220-239908220	skin	malignant_melanoma	Substitution - Missense
c.769G>A; p.E257K; 1:239908220-239908220	skin	malignant_melanoma	Substitution - Missense
c.1161C>T; p.D387D; 1:239908612-239908612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1262C>T; p.P421L; 1:239908713-239908713	skin; shoulder	malignant_melanoma	Substitution - Missense
c.978G>T; p.Q326H; 1:239908429-239908429	liver	carcinoma	Substitution - Missense
c.846delC; p.T284fs*17; 1:239908297-239908297	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.361T>C; p.S121P; 1:239907812-239907812	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1160A>G; p.D387G; 1:239908611-239908611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1261C>T; p.P421S; 1:239908712-239908712	skin	malignant_melanoma	Substitution - Missense
c.1261C>T; p.P421S; 1:239908712-239908712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.181G>T; p.G61*; 1:239907632-239907632	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1261C>T; p.P421S; 1:239908712-239908712	skin	malignant_melanoma	Substitution - Missense
c.128C>G; p.S43C; 1:239907579-239907579	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1382C>T; p.A461V; 1:239908833-239908833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.63A>T; p.I21I; 1:239907514-239907514	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.249C>A; p.I83I; 1:239907700-239907700	thyroid	other; neoplasm	Substitution - coding silent
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	stomach	adenocarcinoma	Deletion - Frameshift
c.1439G>A; p.R480K; 1:239908890-239908890	skin	malignant_melanoma	Substitution - Missense
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1693delA; p.K567fs*>24; 1:239909144-239909144	stomach	adenocarcinoma	Deletion - Frameshift
c.1592G>T; p.W531L; 1:239909043-239909043	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.193G>A; p.V65I; 1:239907644-239907644	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1753G>A; p.A585T; 1:239909204-239909204	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1701G>A; p.K567K; 1:239909152-239909152	skin	malignant_melanoma	Substitution - coding silent
c.631G>T; p.V211F; 1:239908082-239908082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.999C>G; p.S333R; 1:239908450-239908450	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.999C>G; p.S333R; 1:239908450-239908450	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1076C>T; p.S359F; 1:239908527-239908527	skin	malignant_melanoma	Substitution - Missense
c.1464A>G; p.K488K; 1:239908915-239908915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1038G>A; p.L346L; 1:239908489-239908489	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1464A>G; p.K488K; 1:239908915-239908915	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1246G>C; p.D416H; 1:239908697-239908697	skin	malignant_melanoma	Substitution - Missense
c.303G>A; p.T101T; 1:239907754-239907754	skin	malignant_melanoma	Substitution - coding silent
c.1517C>T; p.P506L; 1:239908968-239908968	skin	malignant_melanoma	Substitution - Missense
c.1452C>G; p.V484V; 1:239908903-239908903	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.897C>T; p.S299S; 1:239908348-239908348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282C>A; p.P428T; 1:239908733-239908733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.377C>T; p.T126M; 1:239907828-239907828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.377C>T; p.T126M; 1:239907828-239907828	breast	carcinoma	Substitution - Missense
c.627C>A; p.Y209*; 1:239908078-239908078	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.377C>T; p.T126M; 1:239907828-239907828	central_nervous_system; brain	glioma	Substitution - Missense
c.629T>G; p.F210C; 1:239908080-239908080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1035C>A; p.S345S; 1:239908486-239908486	breast	carcinoma	Substitution - coding silent
c.1330A>C; p.N444H; 1:239908781-239908781	skin; back	malignant_melanoma	Substitution - Missense
c.918G>A; p.R306R; 1:239908369-239908369	skin	malignant_melanoma	Substitution - coding silent
c.328C>T; p.L110L; 1:239907779-239907779	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.82G>T; p.G28W; 1:239907533-239907533	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.T171M; 1:239907963-239907963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.147C>A; p.F49L; 1:239907598-239907598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209G>A; p.R403R; 1:239908660-239908660	skin	malignant_melanoma	Substitution - coding silent
c.1204G>T; p.E402*; 1:239908655-239908655	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1203G>A; p.L401L; 1:239908654-239908654	skin	malignant_melanoma	Substitution - coding silent
c.1485G>A; p.A495A; 1:239908936-239908936	skin	malignant_melanoma	Substitution - coding silent
c.808G>A; p.A270T; 1:239908259-239908259	skin	malignant_melanoma	Substitution - Missense
c.1584G>A; p.L528L; 1:239909035-239909035	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1584G>A; p.L528L; 1:239909035-239909035	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.48C>T; p.I16I; 1:239907499-239907499	skin	malignant_melanoma	Substitution - coding silent
c.1579A>T; p.N527Y; 1:239909030-239909030	kidney	other; neoplasm	Substitution - Missense
c.1682G>T; p.C561F; 1:239909133-239909133	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.353G>A; p.G118E; 1:239907804-239907804	skin	malignant_melanoma	Substitution - Missense
c.694A>T; p.T232S; 1:239908145-239908145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.91C>T; p.P31S; 1:239907542-239907542	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1103T>A; p.V368E; 1:239908554-239908554	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1462A>G; p.K488E; 1:239908913-239908913	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1462A>G; p.K488E; 1:239908913-239908913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599G>A; p.W200*; 1:239908050-239908050	skin; knee	malignant_melanoma	Substitution - Nonsense
c.294G>T; p.Q98H; 1:239907745-239907745	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1683C>A; p.C561*; 1:239909134-239909134	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.159C>G; p.D53E; 1:239907610-239907610	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1684C>A; p.Q562K; 1:239909135-239909135	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>A; p.T175T; 1:239907976-239907976	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.525G>A; p.T175T; 1:239907976-239907976	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1622C>T; p.P541L; 1:239909073-239909073	skin	malignant_melanoma	Substitution - Missense
c.1011G>C; p.W337C; 1:239908462-239908462	urinary_tract; bladder	carcinoma	Substitution - Missense
c.33T>A; p.P11P; 1:239907484-239907484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.128C>T; p.S43F; 1:239907579-239907579	central_nervous_system; brain	glioma	Substitution - Missense
c.675C>T; p.F225F; 1:239908126-239908126	skin	malignant_melanoma	Substitution - coding silent
c.1585G>A; p.G529S; 1:239909036-239909036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.41C>A; p.P14Q; 1:239907492-239907492	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1682G>A; p.C561Y; 1:239909133-239909133	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.489C>A; p.S163R; 1:239907940-239907940	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.564G>C; p.M188I; 1:239908015-239908015	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.170A>C; p.D57A; 1:239907621-239907621	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.781C>T; p.R261C; 1:239908232-239908232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1496C>T; p.A499V; 1:239908947-239908947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>A; p.G358G; 1:239908525-239908525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.582C>A; p.V194V; 1:239908033-239908033	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.964C>T; p.P322S; 1:239908415-239908415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>A; p.T451T; 1:239908804-239908804	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.56C>T; p.S19F; 1:239907507-239907507	skin	malignant_melanoma	Substitution - Missense
c.587C>T; p.S196F; 1:239908038-239908038	skin; trunk	malignant_melanoma	Substitution - Missense
c.1553A>G; p.D518G; 1:239909004-239909004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.587C>T; p.S196F; 1:239908038-239908038	skin	malignant_melanoma	Substitution - Missense
c.1182G>T; p.E394D; 1:239908633-239908633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1182G>T; p.E394D; 1:239908633-239908633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.198G>A; p.W66*; 1:239907649-239907649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1506C>T; p.I502I; 1:239908957-239908957	skin	malignant_melanoma	Substitution - coding silent
c.352G>A; p.G118R; 1:239907803-239907803	skin	malignant_melanoma	Substitution - Missense
c.756G>A; p.W252*; 1:239908207-239908207	skin	malignant_melanoma	Substitution - Nonsense
c.352G>A; p.G118R; 1:239907803-239907803	skin	malignant_melanoma	Substitution - Missense
c.194T>C; p.V65A; 1:239907645-239907645	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792G>A; p.E264E; 1:239908243-239908243	skin	malignant_melanoma	Substitution - coding silent
c.513G>A; p.T171T; 1:239907964-239907964	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1758C>T; p.P586P; 1:239909209-239909209	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1580A>C; p.N527T; 1:239909031-239909031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>T; p.P586P; 1:239909209-239909209	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.482T>C; p.V161A; 1:239907933-239907933	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.V161A; 1:239907933-239907933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.V161A; 1:239907933-239907933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482T>C; p.V161A; 1:239907933-239907933	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.411G>A; p.G137G; 1:239907862-239907862	skin	malignant_melanoma	Substitution - coding silent
c.575C>A; p.A192D; 1:239908026-239908026	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.847C>T; p.P283S; 1:239908298-239908298	skin	malignant_melanoma	Substitution - Missense
c.847C>T; p.P283S; 1:239908298-239908298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.649C>A; p.P217T; 1:239908100-239908100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.74C>T; p.S25F; 1:239907525-239907525	skin; back	malignant_melanoma	Substitution - Missense
c.1484C>T; p.A495V; 1:239908935-239908935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1484C>T; p.A495V; 1:239908935-239908935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1705C>T; p.R569C; 1:239909156-239909156	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1484C>T; p.A495V; 1:239908935-239908935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1705C>T; p.R569C; 1:239909156-239909156	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.94G>A; p.G32R; 1:239907545-239907545	skin; face	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation