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	2986
Symbol	GUCY2F
Synonymous	CYGF\|GC-F\|GUC2DL\|GUC2F\|RETGC-2\|ROS-GC2
Full name	guanylate cyclase 2F, retinal
Gene description	guanylate cyclase 2D-like, membrane (retina-specific)\|guanylate cyclase F\|retinal guanylyl cyclase 2\|rod outer segment membrane guanylate cyclase 2
Cytoband	Xq22
Gene type	protein-coding
Synonymous	MIM:300041; HGNC:HGNC:4691; Ensembl:ENSG00000101890; HPRD:02078; Vega:OTTHUMG00000022184

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.790G>A; p.E264K; 23:109465384-109465384	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2457T>C; p.N819N; 23:109393023-109393023	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2402C>T; p.T801I; 23:109395363-109395363	skin	malignant_melanoma	Substitution - Missense
c.2429A>C; p.K810T; 23:109393051-109393051	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3268G>T; p.E1090*; 23:109375958-109375958	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1887G>A; p.G629G; 23:109409073-109409073	skin	malignant_melanoma	Substitution - coding silent
c.3062G>A; p.R1021H; 23:109382206-109382206	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3062G>A; p.R1021H; 23:109382206-109382206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1459G>A; p.A487T; 23:109452036-109452036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1706A>T; p.D569V; 23:109430392-109430392	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.889G>T; p.V297F; 23:109465285-109465285	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3249C>A; p.G1083G; 23:109375977-109375977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2797G>A; p.D933N; 23:109388648-109388648	skin	malignant_melanoma	Substitution - Missense
c.1991G>A; p.R664K; 23:109404462-109404462	skin	malignant_melanoma	Substitution - Missense
c.3085G>A; p.V1029I; 23:109382183-109382183	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3154A>G; p.K1052E; 23:109376164-109376164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2473C>T; p.L825F; 23:109393007-109393007	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2260G>A; p.D754N; 23:109398564-109398564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1542G>A; p.T514T; 23:109448096-109448096	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2_3insTAT; p.*0_M1insI; 23:109475934-109475935	large_intestine	carcinoma; adenocarcinoma	Insertion - In frame
c.30C>T; p.R10R; 23:109475907-109475907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1848G>A; p.S616S; 23:109409112-109409112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.30C>T; p.R10R; 23:109475907-109475907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.30C>T; p.R10R; 23:109475907-109475907	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.384C>T; p.N128N; 23:109475553-109475553	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2497A>G; p.S833G; 23:109392983-109392983	pancreas	carcinoma	Substitution - Missense
c.1731_1732CC>TT; p.L578F; 23:109430366-109430367	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.709C>A; p.H237N; 23:109475228-109475228	breast	carcinoma	Substitution - Missense
c.1204G>A; p.G402R; 23:109453688-109453688	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3094C>A; p.L1032I; 23:109382174-109382174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.978C>T; p.A326A; 23:109465196-109465196	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.696C>A; p.A232A; 23:109475241-109475241	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2193A>T; p.G731G; 23:109398631-109398631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3094C>A; p.L1032I; 23:109382174-109382174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>T; p.P60S; 23:109475759-109475759	skin	malignant_melanoma	Substitution - Missense
c.1474C>T; p.R492C; 23:109448164-109448164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3163G>T; p.E1055*; 23:109376155-109376155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1986delC; p.H663fs*9; 23:109404467-109404467	prostate	carcinoma	Deletion - Frameshift
c.2491T>A; p.Y831N; 23:109392989-109392989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3163G>T; p.E1055*; 23:109376155-109376155	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2967T>G; p.V989V; 23:109385272-109385272	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3150+3A>G; p.?; 23:109382115-109382115	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.48G>A; p.A16A; 23:109475889-109475889	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2408A>G; p.D803G; 23:109395357-109395357	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.578C>A; p.S193*; 23:109475359-109475359	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3136A>T; p.R1046*; 23:109382132-109382132	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1926T>C; p.L642L; 23:109409034-109409034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2284A>C; p.N762H; 23:109395481-109395481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1953G>T; p.L651F; 23:109409007-109409007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414T>A; p.I805K; 23:109395351-109395351	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1953G>T; p.L651F; 23:109409007-109409007	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2644T>A; p.L882M; 23:109392048-109392048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>A; p.L650L; 23:109409010-109409010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1472G>T; p.R491M; 23:109452023-109452023	skin	malignant_melanoma	Substitution - Missense
c.1536T>A; p.D512E; 23:109448102-109448102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.868T>C; p.Y290H; 23:109465306-109465306	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>A; p.A307T; 23:109465255-109465255	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2339C>T; p.A780V; 23:109395426-109395426	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.919G>A; p.A307T; 23:109465255-109465255	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2041C>T; p.R681C; 23:109404412-109404412	ovary	other; neoplasm	Substitution - Missense
c.829G>A; p.V277I; 23:109465345-109465345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3040G>A; p.E1014K; 23:109385199-109385199	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2237G>A; p.R746Q; 23:109398587-109398587	pancreas	carcinoma	Substitution - Missense
c.2927C>T; p.P976L; 23:109388518-109388518	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.957A>G; p.Q319Q; 23:109465217-109465217	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1847C>A; p.S616*; 23:109409113-109409113	ovary	other; neoplasm	Substitution - Nonsense
c.207G>T; p.K69N; 23:109475730-109475730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>T; p.D343Y; 23:109465147-109465147	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2236C>T; p.R746W; 23:109398588-109398588	pancreas	carcinoma	Substitution - Missense
c.2236C>T; p.R746W; 23:109398588-109398588	pancreas	carcinoma	Substitution - Missense
c.3094C>T; p.L1032F; 23:109382174-109382174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2880C>T; p.I960I; 23:109388565-109388565	skin	malignant_melanoma	Substitution - coding silent
c.883T>C; p.Y295H; 23:109465291-109465291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.984A>C; p.T328T; 23:109465190-109465190	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3170C>A; p.T1057N; 23:109376148-109376148	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3310G>C; p.V1104L; 23:109375916-109375916	prostate	carcinoma	Substitution - Missense
c.3155A>G; p.K1052R; 23:109376163-109376163	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3155A>G; p.K1052R; 23:109376163-109376163	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3155A>G; p.K1052R; 23:109376163-109376163	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3155A>G; p.K1052R; 23:109376163-109376163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>A; p.A186D; 23:109475380-109475380	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1278G>T; p.M426I; 23:109453614-109453614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2057T>C; p.V686A; 23:109404396-109404396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2359C>T; p.L787L; 23:109395406-109395406	breast	carcinoma	Substitution - coding silent
c.190G>A; p.D64N; 23:109475747-109475747	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>A; p.D64N; 23:109475747-109475747	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2722C>A; p.L908I; 23:109391970-109391970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.312C>T; p.C104C; 23:109475625-109475625	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2302C>T; p.P768S; 23:109395463-109395463	skin	malignant_melanoma	Substitution - Missense
c.1393G>T; p.D465Y; 23:109452102-109452102	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>T; p.Q47H; 23:109475796-109475796	central_nervous_system; brain	glioma	Substitution - Missense
c.1703G>A; p.G568D; 23:109430395-109430395	central_nervous_system; brain	glioma	Substitution - Missense
c.1703G>A; p.G568D; 23:109430395-109430395	central_nervous_system; brain	glioma	Substitution - Missense
c.1552C>T; p.P518S; 23:109448086-109448086	skin	malignant_melanoma	Substitution - Missense
c.1657C>A; p.L553I; 23:109441395-109441395	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1843G>T; p.D615Y; 23:109409117-109409117	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1599G>T; p.Q533H; 23:109441453-109441453	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2275+6C>T; p.?; 23:109398543-109398543	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2628A>G; p.E876E; 23:109392064-109392064	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2939G>T; p.R980L; 23:109388506-109388506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2939G>T; p.R980L; 23:109388506-109388506	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1704T>C; p.G568G; 23:109430394-109430394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2256G>A; p.M752I; 23:109398568-109398568	skin	malignant_melanoma	Substitution - Missense
c.3010G>A; p.G1004R; 23:109385229-109385229	NS	malignant_melanoma	Substitution - Missense
c.3200T>G; p.M1067R; 23:109376118-109376118	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.R493H; 23:109448160-109448160	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.R493C; 23:109448161-109448161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.R493C; 23:109448161-109448161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1478G>A; p.R493H; 23:109448160-109448160	ovary	other; neoplasm	Substitution - Missense
c.1477C>T; p.R493C; 23:109448161-109448161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.358G>A; p.A120T; 23:109475579-109475579	skin	malignant_melanoma	Substitution - Missense
c.1478G>A; p.R493H; 23:109448160-109448160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1478G>A; p.R493H; 23:109448160-109448160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1205G>A; p.G402E; 23:109453687-109453687	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2424+1G>A; p.?; 23:109395340-109395340	stomach	carcinoma; adenocarcinoma	Unknown
c.2649C>T; p.V883V; 23:109392043-109392043	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.655G>A; p.V219I; 23:109475282-109475282	breast	carcinoma	Substitution - Missense
c.2649C>T; p.V883V; 23:109392043-109392043	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1299C>T; p.F433F; 23:109453593-109453593	skin	malignant_melanoma	Substitution - coding silent
c.1299C>T; p.F433F; 23:109453593-109453593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396G>A; p.R799Q; 23:109395369-109395369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.501G>A; p.R167R; 23:109475436-109475436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.732A>C; p.I244I; 23:109465442-109465442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2446A>G; p.K816E; 23:109393034-109393034	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.407C>G; p.S136W; 23:109475530-109475530	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3165G>C; p.E1055D; 23:109376153-109376153	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3165G>C; p.E1055D; 23:109376153-109376153	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1726T>C; p.F576L; 23:109430372-109430372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2595T>C; p.V865V; 23:109392097-109392097	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.611G>T; p.R204L; 23:109475326-109475326	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.71A>G; p.H24R; 23:109475866-109475866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.R527C; 23:109441473-109441473	skin	malignant_melanoma	Substitution - Missense
c.2138C>T; p.T713M; 23:109398686-109398686	pancreas	carcinoma	Substitution - Missense
c.1782G>T; p.V594V; 23:109430316-109430316	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2607C>G; p.L869L; 23:109392085-109392085	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2395C>A; p.R799R; 23:109395370-109395370	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2321T>C; p.V774A; 23:109395444-109395444	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3240-8C>A; p.?; 23:109375994-109375994	ovary	other; neoplasm	Unknown
c.2739C>T; p.Y913Y; 23:109391953-109391953	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1638C>G; p.L546L; 23:109441414-109441414	breast	carcinoma	Substitution - coding silent
c.194C>T; p.S65L; 23:109475743-109475743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.987G>T; p.E329D; 23:109465187-109465187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3029C>A; p.A1010D; 23:109385210-109385210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2558C>T; p.T853M; 23:109392922-109392922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2558C>T; p.T853M; 23:109392922-109392922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2539G>A; p.E847K; 23:109392941-109392941	skin	malignant_melanoma	Substitution - Missense
c.277T>C; p.Y93H; 23:109475660-109475660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2996G>T; p.R999I; 23:109385243-109385243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1701G>T; p.E567D; 23:109441351-109441351	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1654A>G; p.S552G; 23:109441398-109441398	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3080G>A; p.S1027N; 23:109382188-109382188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1791+1G>A; p.?; 23:109430306-109430306	skin	malignant_melanoma	Unknown
c.3302G>A; p.R1101K; 23:109375924-109375924	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2955A>T; p.S985S; 23:109388490-109388490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2616C>A; p.G872G; 23:109392076-109392076	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2496T>C; p.S832S; 23:109392984-109392984	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2358G>T; p.Q786H; 23:109395407-109395407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2275+2T>A; p.?; 23:109398547-109398547	lung	carcinoma; adenocarcinoma	Unknown
c.3221C>A; p.P1074Q; 23:109376097-109376097	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1011T>C; p.P337P; 23:109465163-109465163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>A; p.N300K; 23:109465274-109465274	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3270G>T; p.E1090D; 23:109375956-109375956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3111G>C; p.E1037D; 23:109382157-109382157	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1721A>C; p.K574T; 23:109430377-109430377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2795G>T; p.G932V; 23:109388650-109388650	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1215A>T; p.E405D; 23:109453677-109453677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2171G>T; p.S724I; 23:109398653-109398653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.298C>T; p.L100F; 23:109475639-109475639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3164A>G; p.E1055G; 23:109376154-109376154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230G>A; p.R77Q; 23:109475707-109475707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3164A>G; p.E1055G; 23:109376154-109376154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>A; p.H668N; 23:109404451-109404451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2838C>T; p.G946G; 23:109388607-109388607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2453C>G; p.T818S; 23:109393027-109393027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040C>T; p.P347L; 23:109453852-109453852	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1820delA; p.N607fs*16; 23:109409140-109409140	skin	malignant_melanoma	Deletion - Frameshift
c.549C>G; p.F183L; 23:109475388-109475388	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2781+4G>A; p.?; 23:109391907-109391907	pancreas	carcinoma	Unknown
c.130C>G; p.L44V; 23:109475807-109475807	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2353C>A; p.L785I; 23:109395412-109395412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.872A>G; p.K291R; 23:109465302-109465302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3283C>T; p.Q1095*; 23:109375943-109375943	skin	malignant_melanoma	Substitution - Nonsense
c.1880C>A; p.S627Y; 23:109409080-109409080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.612A>G; p.R204R; 23:109475325-109475325	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.887G>A; p.R296Q; 23:109465287-109465287	thyroid	other; neoplasm	Substitution - Missense
c.2464G>T; p.D822Y; 23:109393016-109393016	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.777G>T; p.Q259H; 23:109465397-109465397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.29G>C; p.R10P; 23:109475908-109475908	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2861C>T; p.A954V; 23:109388584-109388584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.29G>C; p.R10P; 23:109475908-109475908	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.29G>C; p.R10P; 23:109475908-109475908	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.29G>C; p.R10P; 23:109475908-109475908	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.878C>T; p.T293I; 23:109465296-109465296	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>A; p.E1056K; 23:109376152-109376152	skin	malignant_melanoma	Substitution - Missense
c.838C>T; p.P280S; 23:109465336-109465336	skin	malignant_melanoma	Substitution - Missense
c.3114C>T; p.G1038G; 23:109382154-109382154	stomach	adenocarcinoma	Substitution - coding silent
c.3166G>A; p.E1056K; 23:109376152-109376152	skin	malignant_melanoma	Substitution - Missense
c.1882C>T; p.R628*; 23:109409078-109409078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838C>T; p.P280S; 23:109465336-109465336	skin	malignant_melanoma	Substitution - Missense
c.1882C>T; p.R628*; 23:109409078-109409078	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2823C>T; p.L941L; 23:109388622-109388622	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1618A>C; p.S540R; 23:109441434-109441434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1896A>C; p.E632D; 23:109409064-109409064	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2183C>G; p.S728C; 23:109398641-109398641	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2021G>A; p.R674Q; 23:109404432-109404432	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.954C>T; p.S318S; 23:109465220-109465220	skin	malignant_melanoma	Substitution - coding silent
c.2782-1G>T; p.?; 23:109388664-109388664	ovary	other; neoplasm	Unknown
c.2198T>C; p.V733A; 23:109398626-109398626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>A; p.S586S; 23:109430340-109430340	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3147C>G; p.L1049L; 23:109382121-109382121	breast	carcinoma	Substitution - coding silent
c.47C>T; p.A16V; 23:109475890-109475890	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.591T>G; p.I197M; 23:109475346-109475346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2922A>C; p.E974D; 23:109388523-109388523	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.650G>T; p.G217V; 23:109475287-109475287	breast	carcinoma	Substitution - Missense
c.3056-1G>A; p.?; 23:109382213-109382213	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.438T>G; p.I146M; 23:109475499-109475499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.E427K; 23:109453613-109453613	skin	malignant_melanoma	Substitution - Missense
c.1479T>C; p.R493R; 23:109448159-109448159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2292T>C; p.L764L; 23:109395473-109395473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2597C>T; p.A866V; 23:109392095-109392095	breast	carcinoma	Substitution - Missense
c.708T>C; p.I236I; 23:109475229-109475229	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3218C>T; p.P1073L; 23:109376100-109376100	bone; pelvis	chondrosarcoma	Substitution - Missense
c.49G>A; p.A17T; 23:109475888-109475888	liver	carcinoma	Substitution - Missense
c.1683C>T; p.S561S; 23:109441369-109441369	skin	malignant_melanoma	Substitution - coding silent
c.49G>A; p.A17T; 23:109475888-109475888	liver	carcinoma	Substitution - Missense
c.174G>A; p.V58V; 23:109475763-109475763	skin	malignant_melanoma	Substitution - coding silent
c.143T>A; p.V48E; 23:109475794-109475794	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3105G>T; p.L1035L; 23:109382163-109382163	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1135G>T; p.V379F; 23:109453757-109453757	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2782-3C>T; p.?; 23:109388666-109388666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1885G>A; p.G629R; 23:109409075-109409075	breast	carcinoma	Substitution - Missense
c.30C>A; p.R10R; 23:109475907-109475907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2914A>T; p.M972L; 23:109388531-109388531	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2530G>C; p.E844Q; 23:109392950-109392950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.522G>A; p.R174R; 23:109475415-109475415	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2183C>A; p.S728Y; 23:109398641-109398641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2183C>A; p.S728Y; 23:109398641-109398641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2478G>A; p.R826R; 23:109393002-109393002	skin	malignant_melanoma	Substitution - coding silent
c.1864G>T; p.V622L; 23:109409096-109409096	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2959C>T; p.P987S; 23:109385280-109385280	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1021G>A; p.E341K; 23:109465153-109465153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2785G>T; p.E929*; 23:109388660-109388660	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1786G>A; p.E596K; 23:109430312-109430312	skin	malignant_melanoma	Substitution - Missense
c.1786G>A; p.E596K; 23:109430312-109430312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1786G>A; p.E596K; 23:109430312-109430312	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2584C>T; p.P862S; 23:109392896-109392896	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1849G>T; p.G617W; 23:109409111-109409111	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2038G>A; p.G680R; 23:109404415-109404415	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2472G>T; p.M824I; 23:109393008-109393008	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.711C>A; p.H237Q; 23:109475226-109475226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2004T>C; p.H668H; 23:109404449-109404449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2451G>T; p.K817N; 23:109393029-109393029	pancreas	carcinoma	Substitution - Missense
c.973C>T; p.Q325*; 23:109465201-109465201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2706C>A; p.P902P; 23:109391986-109391986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459G>C; p.A487P; 23:109452036-109452036	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>A; p.P347P; 23:109453851-109453851	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.602C>T; p.T201I; 23:109475335-109475335	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1309C>A; p.P437T; 23:109453583-109453583	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1692G>A; p.A564A; 23:109441360-109441360	skin	malignant_melanoma	Substitution - coding silent
c.57G>A; p.R19R; 23:109475880-109475880	skin	malignant_melanoma	Substitution - coding silent
c.1692G>A; p.A564A; 23:109441360-109441360	skin	malignant_melanoma	Substitution - coding silent
c.1193C>T; p.S398L; 23:109453699-109453699	skin	malignant_melanoma	Substitution - Missense
c.1991G>T; p.R664I; 23:109404462-109404462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1122T>G; p.G374G; 23:109453770-109453770	breast	carcinoma	Substitution - coding silent
c.1915G>T; p.D639Y; 23:109409045-109409045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.754G>A; p.A252T; 23:109465420-109465420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2844G>A; p.R948R; 23:109388601-109388601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2239G>A; p.G747S; 23:109398585-109398585	skin	malignant_melanoma	Substitution - Missense
c.1702G>T; p.G568C; 23:109430396-109430396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2306C>T; p.P769L; 23:109395459-109395459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2368C>A; p.Q790K; 23:109395397-109395397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.148A>G; p.T50A; 23:109475789-109475789	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2926C>A; p.P976T; 23:109388519-109388519	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.148A>G; p.T50A; 23:109475789-109475789	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.41_42GG>AA; p.W14*; 23:109475895-109475896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3076C>A; p.L1026I; 23:109382192-109382192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.799C>G; p.H267D; 23:109465375-109465375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3080G>T; p.S1027I; 23:109382188-109382188	liver	carcinoma	Substitution - Missense
c.3152G>A; p.G1051D; 23:109376166-109376166	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2477G>A; p.R826Q; 23:109393003-109393003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064C>A; p.S355*; 23:109453828-109453828	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1064C>A; p.S355*; 23:109453828-109453828	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2009G>C; p.R670T; 23:109404444-109404444	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>T; p.R505I; 23:109448124-109448124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1692G>T; p.A564A; 23:109441360-109441360	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.364G>A; p.G122R; 23:109475573-109475573	skin	malignant_melanoma	Substitution - Missense
c.681A>T; p.Q227H; 23:109475256-109475256	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1179G>T; p.L393F; 23:109453713-109453713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.271C>G; p.L91V; 23:109475666-109475666	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>T; p.G669W; 23:109404448-109404448	skin	malignant_melanoma	Substitution - Missense
c.2077G>A; p.D693N; 23:109404376-109404376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1791G>T; p.M597I; 23:109430307-109430307	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1805G>A; p.R602H; 23:109409155-109409155	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2931C>A; p.V977V; 23:109388514-109388514	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.F595F; 23:109430313-109430313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1785C>T; p.F595F; 23:109430313-109430313	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.F595F; 23:109430313-109430313	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1258A>T; p.S420C; 23:109453634-109453634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1342G>T; p.A448S; 23:109453550-109453550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2938C>A; p.R980R; 23:109388507-109388507	thyroid	carcinoma	Substitution - coding silent
c.1083A>C; p.Q361H; 23:109453809-109453809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2947C>T; p.L983F; 23:109388498-109388498	skin	malignant_melanoma	Substitution - Missense
c.3156A>G; p.K1052K; 23:109376162-109376162	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318C>A; p.N1106K; 23:109375908-109375908	breast	carcinoma	Substitution - Missense
c.3318C>A; p.N1106K; 23:109375908-109375908	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3318C>A; p.N1106K; 23:109375908-109375908	thyroid	other; neoplasm	Substitution - Missense
c.2641G>T; p.D881Y; 23:109392051-109392051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1077C>T; p.I359I; 23:109453815-109453815	skin	malignant_melanoma	Substitution - coding silent
c.2771A>T; p.D924V; 23:109391921-109391921	liver	carcinoma	Substitution - Missense
c.1269T>C; p.T423T; 23:109453623-109453623	breast	carcinoma	Substitution - coding silent
c.74A>T; p.H25L; 23:109475863-109475863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2771A>T; p.D924V; 23:109391921-109391921	liver	carcinoma	Substitution - Missense
c.2624T>A; p.V875D; 23:109392068-109392068	breast	carcinoma	Substitution - Missense
c.2893G>A; p.G965S; 23:109388552-109388552	liver	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation