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	9922
Symbol	IQSEC1
Synonymous	ARF-GEP100\|ARFGEP100\|BRAG2\|GEP100
Full name	IQ motif and Sec7 domain 1
Gene description	ADP-ribosylation factors guanine nucleotide-exchange protein 100\|ADP-ribosylation factors guanine nucleotide-exchange protein 2\|IQ motif and SEC7 domain-containing protein 1\|brefeldin A-resistant ARF-GEF2\|brefeldin-resistant Arf-GEF 2 protein
Cytoband	3p25.2
Gene type	protein-coding
Synonymous	MIM:610166; HGNC:HGNC:29112; Ensembl:ENSG00000144711; HPRD:11052; Vega:OTTHUMG00000155398

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2271C>T; p.C757C; 3:12913515-12913515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.576C>T; p.F192F; 3:12936482-12936482	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.576C>T; p.F192F; 3:12936482-12936482	skin	malignant_melanoma	Substitution - coding silent
c.2579C>T; p.S860F; 3:12909314-12909314	skin	malignant_melanoma	Substitution - Missense
c.2025G>C; p.R675R; 3:12920467-12920467	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1765G>A; p.V589M; 3:12924588-12924588	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1770C>T; p.L590L; 3:12924583-12924583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.846G>T; p.Q282H; 3:12936212-12936212	breast	carcinoma	Substitution - Missense
c.838G>C; p.E280Q; 3:12936220-12936220	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2169G>A; p.Q723Q; 3:12915627-12915627	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1940G>A; p.R647Q; 3:12920552-12920552	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2612G>T; p.R871M; 3:12909281-12909281	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1645C>T; p.R549C; 3:12924708-12924708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.R158C; 3:12936586-12936586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472C>T; p.R158C; 3:12936586-12936586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.183G>A; p.T61T; 3:12941748-12941748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.165G>A; p.P55P; 3:12941766-12941766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2666A>G; p.Q889R; 3:12908480-12908480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2666A>G; p.Q889R; 3:12908480-12908480	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2651G>T; p.R884L; 3:12908495-12908495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.504C>T; p.R168R; 3:12936554-12936554	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2799G>A; p.G933G; 3:12902821-12902821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2651G>T; p.R884L; 3:12908495-12908495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2325G>A; p.Q775Q; 3:12913461-12913461	pancreas	carcinoma	Substitution - coding silent
c.2190G>A; p.V730V; 3:12915606-12915606	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.207C>T; p.Y69Y; 3:12941724-12941724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.91G>A; p.E31K; 3:12941840-12941840	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1071G>A; p.T357T; 3:12935987-12935987	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290G>T; p.D764Y; 3:12913496-12913496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2373C>T; p.F791F; 3:12911714-12911714	skin	malignant_melanoma	Substitution - coding silent
c.2212C>A; p.L738M; 3:12915124-12915124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.98G>T; p.G33V; 3:12941833-12941833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2629G>C; p.E877Q; 3:12908517-12908517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.31A>T; p.T11S; 3:12967421-12967421	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1428G>A; p.T476T; 3:12935630-12935630	pancreas	carcinoma	Substitution - coding silent
c.436C>T; p.R146C; 3:12936622-12936622	skin	malignant_melanoma	Substitution - Missense
c.998G>A; p.R333Q; 3:12936060-12936060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2724C>T; p.D908D; 3:12908422-12908422	breast	carcinoma	Substitution - coding silent
c.2724C>T; p.D908D; 3:12908422-12908422	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2476C>T; p.R826W; 3:12909417-12909417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1124A>G; p.E375G; 3:12935934-12935934	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1124A>G; p.E375G; 3:12935934-12935934	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2622G>A; p.S874S; 3:12908524-12908524	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1124A>G; p.E375G; 3:12935934-12935934	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2636A>G; p.Q879R; 3:12908510-12908510	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.174C>T; p.Y58Y; 3:12941757-12941757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1585C>A; p.R529S; 3:12935473-12935473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1099C>T; p.R367W; 3:12935959-12935959	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>C; p.D469H; 3:12935653-12935653	breast	carcinoma	Substitution - Missense
c.1461C>G; p.S487S; 3:12935597-12935597	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.70G>A; p.E24K; 3:12941861-12941861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2144A>G; p.N715S; 3:12915652-12915652	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1922G>A; p.G641E; 3:12920570-12920570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1952C>T; p.T651I; 3:12920540-12920540	skin	malignant_melanoma	Substitution - Missense
c.891G>A; p.T297T; 3:12936167-12936167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2587G>A; p.E863K; 3:12909306-12909306	urinary_tract; bladder	carcinoma	Substitution - Missense
c.416G>T; p.R139L; 3:12936642-12936642	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>T; p.S515S; 3:12935513-12935513	breast	carcinoma	Substitution - coding silent
c.2559C>T; p.F853F; 3:12909334-12909334	liver	carcinoma	Substitution - coding silent
c.1250G>T; p.S417I; 3:12935808-12935808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1777G>A; p.V593I; 3:12922238-12922238	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.305G>A; p.R102H; 3:12941626-12941626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.473G>T; p.R158L; 3:12936585-12936585	ovary	other; neoplasm	Substitution - Missense
c.2254C>T; p.R752W; 3:12913532-12913532	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>T; p.G425C; 3:12935785-12935785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2705T>A; p.L902Q; 3:12908441-12908441	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2619G>T; p.E873D; 3:12909274-12909274	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>T; p.G425C; 3:12935785-12935785	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>T; p.P269L; 3:12936252-12936252	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1529G>A; p.R510H; 3:12935529-12935529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.501A>G; p.S167S; 3:12936557-12936557	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2761G>A; p.A921T; 3:12908385-12908385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2761G>A; p.A921T; 3:12908385-12908385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2761G>A; p.A921T; 3:12908385-12908385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.655G>A; p.E219K; 3:12936403-12936403	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.655G>A; p.E219K; 3:12936403-12936403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2809C>T; p.R937C; 3:12902811-12902811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2809C>T; p.R937C; 3:12902811-12902811	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2775C>T; p.S925S; 3:12908371-12908371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1586G>A; p.R529H; 3:12935472-12935472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1212G>T; p.Q404H; 3:12935846-12935846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1239G>A; p.G413G; 3:12935819-12935819	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2166G>A; p.V722V; 3:12915630-12915630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.493C>G; p.R165G; 3:12936565-12936565	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.766G>A; p.D256N; 3:12936292-12936292	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.766G>A; p.D256N; 3:12936292-12936292	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.766G>A; p.D256N; 3:12936292-12936292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.942C>T; p.P314P; 3:12936116-12936116	skin	malignant_melanoma	Substitution - coding silent
c.1999T>C; p.Y667H; 3:12920493-12920493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.138_139insC; p.V48fs*49; 3:12941792-12941793	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2461T>G; p.Y821D; 3:12909432-12909432	skin	malignant_melanoma	Substitution - Missense
c.506G>T; p.R169L; 3:12936552-12936552	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272C>T; p.S424S; 3:12935786-12935786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.793A>G; p.T265A; 3:12936265-12936265	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.314C>T; p.S105L; 3:12941617-12941617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.939G>T; p.S313S; 3:12936119-12936119	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1187C>T; p.S396L; 3:12935871-12935871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1187C>T; p.S396L; 3:12935871-12935871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.75C>T; p.G25G; 3:12941856-12941856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1646G>A; p.R549H; 3:12924707-12924707	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1646G>A; p.R549H; 3:12924707-12924707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>T; p.P640S; 3:12920574-12920574	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.160A>T; p.S54C; 3:12941771-12941771	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>T; p.P640S; 3:12920574-12920574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1780G>A; p.V594M; 3:12922235-12922235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.944delC; p.P315fs*218; 3:12936114-12936114	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.132G>T; p.Q44H; 3:12941799-12941799	pancreas	carcinoma	Substitution - Missense
c.2595A>G; p.Q865Q; 3:12909298-12909298	skin	malignant_melanoma	Substitution - coding silent
c.2324A>G; p.Q775R; 3:12913462-12913462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2313C>T; p.L771L; 3:12913473-12913473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.416G>A; p.R139H; 3:12936642-12936642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2313C>T; p.L771L; 3:12913473-12913473	skin	malignant_melanoma	Substitution - coding silent
c.220G>T; p.G74W; 3:12941711-12941711	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2719C>T; p.L907L; 3:12908427-12908427	pleura	pulmonary_blastoma	Substitution - coding silent
c.2589delA; p.V864fs*9; 3:12909304-12909304	breast	carcinoma	Deletion - Frameshift
c.377G>A; p.R126Q; 3:12936681-12936681	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.975G>A; p.P325P; 3:12936083-12936083	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.473G>A; p.R158H; 3:12936585-12936585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.975G>A; p.P325P; 3:12936083-12936083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.946C>T; p.L316L; 3:12936112-12936112	skin	malignant_melanoma	Substitution - coding silent
c.187G>T; p.V63L; 3:12941744-12941744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.A274T; 3:12936238-12936238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2573G>T; p.R858L; 3:12909320-12909320	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.973C>T; p.P325S; 3:12936085-12936085	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.432G>A; p.A144A; 3:12936626-12936626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2766C>A; p.L922L; 3:12908380-12908380	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.753C>T; p.A251A; 3:12936305-12936305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545G>A; p.S515S; 3:12935513-12935513	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.897G>A; p.S299S; 3:12936161-12936161	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1475G>A; p.R492H; 3:12935583-12935583	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1785C>T; p.D595D; 3:12922230-12922230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1839G>A; p.A613A; 3:12922176-12922176	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1671C>T; p.V557V; 3:12924682-12924682	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1972G>A; p.A658T; 3:12920520-12920520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.A138A; 3:12936644-12936644	skin	malignant_melanoma	Substitution - coding silent
c.1885G>C; p.E629Q; 3:12922130-12922130	breast	carcinoma	Substitution - Missense
c.1500C>T; p.L500L; 3:12935558-12935558	breast	carcinoma	Substitution - coding silent
c.1442A>G; p.D481G; 3:12935616-12935616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1357G>T; p.G453C; 3:12935701-12935701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2643C>T; p.G881G; 3:12908503-12908503	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404T>C; p.G468G; 3:12935654-12935654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1144A>G; p.I382V; 3:12935914-12935914	liver	carcinoma	Substitution - Missense
c.1861G>A; p.A621T; 3:12922154-12922154	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1144A>G; p.I382V; 3:12935914-12935914	liver	carcinoma	Substitution - Missense
c.1697G>A; p.R566H; 3:12924656-12924656	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1389G>A; p.S463S; 3:12935669-12935669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2797G>T; p.G933W; 3:12908349-12908349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2789C>T; p.S930L; 3:12908357-12908357	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.164C>T; p.P55L; 3:12941767-12941767	skin	malignant_melanoma	Substitution - Missense
c.1064C>T; p.T355M; 3:12935994-12935994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1290C>T; p.L430L; 3:12935768-12935768	skin	malignant_melanoma	Substitution - coding silent
c.1290C>T; p.L430L; 3:12935768-12935768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1499T>A; p.L500H; 3:12935559-12935559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.347T>G; p.L116R; 3:12941584-12941584	skin	malignant_melanoma	Substitution - Missense
c.431C>T; p.A144V; 3:12936627-12936627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>A; p.S330S; 3:12936068-12936068	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>A; p.G287S; 3:12936199-12936199	urinary_tract; bladder	carcinoma	Substitution - Missense
c.260C>T; p.S87L; 3:12941671-12941671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>A; p.D650N; 3:12920544-12920544	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2252G>A; p.R751H; 3:12913534-12913534	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>A; p.Q370Q; 3:12935948-12935948	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1193G>A; p.R398Q; 3:12935865-12935865	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>A; p.R398Q; 3:12935865-12935865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.442T>G; p.Y148D; 3:12936616-12936616	thyroid	other; neoplasm	Substitution - Missense
c.438C>T; p.R146R; 3:12936620-12936620	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.404G>A; p.R135H; 3:12936654-12936654	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2355G>A; p.L785L; 3:12913431-12913431	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.195C>A; p.A65A; 3:12941736-12941736	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>A; p.A65A; 3:12941736-12941736	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>A; p.A65A; 3:12941736-12941736	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2559C>A; p.F853L; 3:12909334-12909334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2059C>T; p.R687*; 3:12920433-12920433	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.724G>A; p.A242T; 3:12936334-12936334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2489C>T; p.S830F; 3:12909404-12909404	skin	malignant_melanoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1424G>A; p.S475N; 3:12935634-12935634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>G; p.V374G; 3:12935937-12935937	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1848T>C; p.R616R; 3:12922167-12922167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.69C>T; p.V23V; 3:12941862-12941862	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation