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	4780
Symbol	NFE2L2
Synonymous	NRF2
Full name	nuclear factor, erythroid 2-like 2
Gene description	HEBP1\|NF-E2-related factor 2\|NFE2-related factor 2\|nuclear factor (erythroid-derived 2)-like 2\|nuclear factor erythroid 2-related factor 2\|nuclear factor erythroid-derived 2-like 2\|nuclear factor, erythroid derived 2, like 2
Cytoband	2q31
Gene type	protein-coding
Synonymous	MIM:600492; HGNC:HGNC:7782; Ensembl:ENSG00000116044; HPRD:02732; Vega:OTTHUMG00000133620

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.241G>T; p.G81C; 2:177234076-177234076	liver	carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.241G>T; p.G81C; 2:177234076-177234076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.241G>T; p.G81C; 2:177234076-177234076	liver	carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma	Substitution - Missense
c.67C>G; p.L23V; 2:177234250-177234250	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86A>G; p.D29G; 2:177234231-177234231	liver	carcinoma	Substitution - Missense
c.1706G>A; p.R569H; 2:177230897-177230897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.238A>C; p.T80P; 2:177234079-177234079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.491C>G; p.S164*; 2:177232495-177232495	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Nonsense
c.458G>T; p.S153I; 2:177232528-177232528	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.236_237insAGA; p.E79_T80insE; 2:177234080-177234081	oesophagus	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.89T>A; p.L30H; 2:177234228-177234228	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.95T>G; p.V32G; 2:177234222-177234222	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.95T>G; p.V32G; 2:177234222-177234222	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.97A>C; p.S33R; 2:177234220-177234220	liver	carcinoma	Substitution - Missense
c.97A>C; p.S33R; 2:177234220-177234220	liver	carcinoma	Substitution - Missense
c.1134G>C; p.V378V; 2:177231469-177231469	liver	carcinoma	Substitution - coding silent
c.1207A>T; p.M403L; 2:177231396-177231396	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1134G>C; p.V378V; 2:177231469-177231469	liver	carcinoma	Substitution - coding silent
c.213C>T; p.F71F; 2:177234104-177234104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.244G>C; p.E82Q; 2:177234073-177234073	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.244G>C; p.E82Q; 2:177234073-177234073	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1241G>A; p.S414N; 2:177231362-177231362	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.230A>T; p.D77V; 2:177234087-177234087	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.76C>G; p.Q26E; 2:177234241-177234241	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83T>C; p.I28T; 2:177234234-177234234	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544G>C; p.R515T; 2:177231059-177231059	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230A>T; p.D77V; 2:177234087-177234087	liver	carcinoma	Substitution - Missense
c.230A>T; p.D77V; 2:177234087-177234087	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.230A>T; p.D77V; 2:177234087-177234087	liver	carcinoma	Substitution - Missense
c.230A>T; p.D77V; 2:177234087-177234087	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.83T>C; p.I28T; 2:177234234-177234234	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.232G>A; p.E78K; 2:177234085-177234085	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82_87delATAGAT; p.I28_D29del; 2:177234230-177234235	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.371C>T; p.A124V; 2:177233281-177233281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.371C>T; p.A124V; 2:177233281-177233281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>T; p.E380*; 2:177231465-177231465	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.246A>T; p.E82D; 2:177234071-177234071	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246A>T; p.E82D; 2:177234071-177234071	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1687G>A; p.E563K; 2:177230916-177230916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1346G>A; p.R449H; 2:177231257-177231257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.128G>A; p.R43Q; 2:177234189-177234189	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1396A>C; p.I466L; 2:177231207-177231207	oesophagus	carcinoma	Substitution - Missense
c.407C>T; p.S136F; 2:177232579-177232579	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	liver	carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>T; p.G31V; 2:177234225-177234225	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>T; p.G81V; 2:177234075-177234075	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.T80R; 2:177234078-177234078	oesophagus	carcinoma	Substitution - Missense
c.239C>G; p.T80R; 2:177234078-177234078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>G; p.T80R; 2:177234078-177234078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.70T>C; p.W24R; 2:177234247-177234247	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.70T>C; p.W24R; 2:177234247-177234247	urinary_tract; bladder	carcinoma	Substitution - Missense
c.371C>G; p.A124G; 2:177233281-177233281	breast	carcinoma	Substitution - Missense
c.108_109insAAA; p.V36_F37insK; 2:177234208-177234209	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.80A>G; p.D27G; 2:177234237-177234237	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.80A>G; p.D27G; 2:177234237-177234237	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80A>G; p.D27G; 2:177234237-177234237	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.79G>C; p.D27H; 2:177234238-177234238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	breast	carcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.242G>A; p.G81D; 2:177234075-177234075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.689C>T; p.S230L; 2:177231914-177231914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.75_76insAGG; p.R25_Q26insR; 2:177234241-177234242	liver	carcinoma	Insertion - In frame
c.100C>G; p.R34G; 2:177234217-177234217	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	urinary_tract; bladder	carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	liver	carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	urinary_tract; bladder	carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	liver	carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100C>G; p.R34G; 2:177234217-177234217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.236A>T; p.E79V; 2:177234081-177234081	liver	carcinoma	Substitution - Missense
c.1249G>C; p.V417L; 2:177231354-177231354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.236A>T; p.E79V; 2:177234081-177234081	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.238A>G; p.T80A; 2:177234079-177234079	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.407C>A; p.S136Y; 2:177232579-177232579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95T>A; p.V32E; 2:177234222-177234222	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1514G>A; p.G505D; 2:177231089-177231089	skin	malignant_melanoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.86A>T; p.D29V; 2:177234231-177234231	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	liver	carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	liver	carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	liver	carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.89T>G; p.L30R; 2:177234228-177234228	liver	carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	liver	carcinoma	Substitution - Missense
c.1495C>T; p.R499W; 2:177231108-177231108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	liver	carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.245A>G; p.E82G; 2:177234072-177234072	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.481C>G; p.Q161E; 2:177232505-177232505	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1518G>C; p.K506N; 2:177231085-177231085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.101G>A; p.R34Q; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.285A>C; p.E95D; 2:177234032-177234032	liver	carcinoma	Substitution - Missense
c.72G>C; p.W24C; 2:177234245-177234245	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72G>C; p.W24C; 2:177234245-177234245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.641C>A; p.P214Q; 2:177231962-177231962	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.72G>C; p.W24C; 2:177234245-177234245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72G>C; p.W24C; 2:177234245-177234245	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.72G>C; p.W24C; 2:177234245-177234245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>A; p.G31E; 2:177234225-177234225	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>A; p.G31E; 2:177234225-177234225	liver	carcinoma	Substitution - Missense
c.1305T>C; p.G435G; 2:177231298-177231298	liver	carcinoma	Substitution - coding silent
c.92G>A; p.G31E; 2:177234225-177234225	liver	carcinoma	Substitution - Missense
c.92G>A; p.G31E; 2:177234225-177234225	liver	carcinoma	Substitution - Missense
c.92G>A; p.G31E; 2:177234225-177234225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>A; p.G31E; 2:177234225-177234225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>A; p.T80K; 2:177234078-177234078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>A; p.T80K; 2:177234078-177234078	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>A; p.T80K; 2:177234078-177234078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.78A>C; p.Q26H; 2:177234239-177234239	liver	carcinoma	Substitution - Missense
c.78A>C; p.Q26H; 2:177234239-177234239	liver	carcinoma	Substitution - Missense
c.239C>A; p.T80K; 2:177234078-177234078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.245A>C; p.E82A; 2:177234072-177234072	liver	carcinoma	Substitution - Missense
c.239C>A; p.T80K; 2:177234078-177234078	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.78_80delAGA; p.Q26_D27>H; 2:177234237-177234239	oesophagus	carcinoma; squamous_cell_carcinoma	Complex - deletion inframe
c.239C>A; p.T80K; 2:177234078-177234078	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.85G>T; p.D29Y; 2:177234232-177234232	urinary_tract; bladder	carcinoma	Substitution - Missense
c.85G>T; p.D29Y; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>T; p.D29Y; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>T; p.D29Y; 2:177234232-177234232	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.281C>A; p.S94*; 2:177234036-177234036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.105_107delAGT; p.V36del; 2:177234210-177234212	kidney	carcinoma; papillary_renal_cell_carcinoma	Deletion - In frame
c.555G>C; p.E185D; 2:177232431-177232431	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1504C>T; p.R502C; 2:177231099-177231099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.D29N; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>A; p.D29N; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>A; p.D29N; 2:177234232-177234232	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1613A>C; p.K538T; 2:177230990-177230990	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1390C>G; p.L464V; 2:177231213-177231213	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.959C>G; p.S320C; 2:177231644-177231644	breast	carcinoma	Substitution - Missense
c.1538A>T; p.N513I; 2:177231065-177231065	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.903A>C; p.S301S; 2:177231700-177231700	breast	carcinoma	Substitution - coding silent
c.77A>T; p.Q26L; 2:177234240-177234240	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	liver	carcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646G>T; p.S549I; 2:177230957-177230957	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	liver	carcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230A>G; p.D77G; 2:177234087-177234087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1610A>G; p.E537G; 2:177230993-177230993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.100C>T; p.R34*; 2:177234217-177234217	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.236A>G; p.E79G; 2:177234081-177234081	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.236A>G; p.E79G; 2:177234081-177234081	liver	carcinoma	Substitution - Missense
c.79G>T; p.D27Y; 2:177234238-177234238	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.479A>G; p.N160S; 2:177232507-177232507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.241G>A; p.G81S; 2:177234076-177234076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.241G>A; p.G81S; 2:177234076-177234076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.241G>A; p.G81S; 2:177234076-177234076	liver	carcinoma	Substitution - Missense
c.68T>G; p.L23R; 2:177234249-177234249	liver	carcinoma	Substitution - Missense
c.68T>G; p.L23R; 2:177234249-177234249	liver	carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	skin	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	urinary_tract; bladder	carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.225A>T; p.Q75H; 2:177234092-177234092	liver	carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.225A>T; p.Q75H; 2:177234092-177234092	liver	carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	oesophagus	carcinoma	Substitution - Missense
c.92G>C; p.G31A; 2:177234225-177234225	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>T; p.T80I; 2:177234078-177234078	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.1509G>A; p.R503R; 2:177231094-177231094	skin	malignant_melanoma	Substitution - coding silent
c.81_82insCTA; p.D27_I28insL; 2:177234235-177234236	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.256A>T; p.I86F; 2:177234061-177234061	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.256A>C; p.I86L; 2:177234061-177234061	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1431T>C; p.P477P; 2:177231172-177231172	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1800A>G; p.P600P; 2:177230803-177230803	breast	carcinoma	Substitution - coding silent
c.230A>C; p.D77A; 2:177234087-177234087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246C>T; p.H416Y; 2:177231357-177231357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.426A>G; p.S142S; 2:177232560-177232560	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.230A>C; p.D77A; 2:177234087-177234087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.426A>G; p.S142S; 2:177232560-177232560	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.112G>C; p.D38H; 2:177234205-177234205	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.428T>G; p.L143R; 2:177232558-177232558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>T; p.E427*; 2:177231324-177231324	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.94_95insGAG; p.G31_V32insG; 2:177234222-177234223	liver	carcinoma	Insertion - In frame
c.802G>A; p.V268M; 2:177231801-177231801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1665_1666insA; p.Q556fs*15; 2:177230937-177230938	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.739C>T; p.L247F; 2:177231864-177231864	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.294A>C; p.G98G; 2:177234023-177234023	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1400C>T; p.P467L; 2:177231203-177231203	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1429C>T; p.P477S; 2:177231174-177231174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	urinary_tract; bladder	carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.E79K; 2:177234082-177234082	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	pancreas	carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	skin	malignant_melanoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.88C>T; p.L30F; 2:177234229-177234229	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.85G>C; p.D29H; 2:177234232-177234232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1532C>T; p.A511V; 2:177231071-177231071	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>A; p.G31R; 2:177234226-177234226	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.91G>A; p.G31R; 2:177234226-177234226	urinary_tract; bladder	carcinoma	Substitution - Missense
c.127C>G; p.R43G; 2:177234190-177234190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1428C>T; p.L476L; 2:177231175-177231175	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.246A>C; p.E82D; 2:177234071-177234071	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.246A>C; p.E82D; 2:177234071-177234071	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.225A>C; p.Q75H; 2:177234092-177234092	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246A>C; p.E82D; 2:177234071-177234071	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.225A>C; p.Q75H; 2:177234092-177234092	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.1747C>T; p.L583L; 2:177230856-177230856	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1747C>T; p.L583L; 2:177230856-177230856	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.76C>A; p.Q26K; 2:177234241-177234241	oesophagus	carcinoma	Substitution - Missense
c.76C>A; p.Q26K; 2:177234241-177234241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.77A>C; p.Q26P; 2:177234240-177234240	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.245A>T; p.E82V; 2:177234072-177234072	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.91G>C; p.G31R; 2:177234226-177234226	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.93_95delAGT; p.V32del; 2:177234222-177234224	oesophagus	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.72G>T; p.W24C; 2:177234245-177234245	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.218A>T; p.Q73L; 2:177234099-177234099	liver	carcinoma	Substitution - Missense
c.218A>T; p.Q73L; 2:177234099-177234099	liver	carcinoma	Substitution - Missense
c.228_230delAGA; p.D77delD; 2:177234087-177234089	liver	carcinoma	Deletion - In frame
c.235G>T; p.E79*; 2:177234082-177234082	liver	carcinoma	Substitution - Nonsense
c.1033G>A; p.G345S; 2:177231570-177231570	skin	malignant_melanoma	Substitution - Missense
c.101G>C; p.R34P; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>C; p.R34P; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>C; p.R34P; 2:177234216-177234216	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.240_248delAGGTGAATT; p.G81_F83delGEF; 2:177234069-177234077	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.108_109ins12; p.V36_F37insSREV; 2:177234208-177234209	oesophagus	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.101G>C; p.R34P; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.212T>C; p.F71S; 2:177234105-177234105	NS	carcinoma	Substitution - Missense
c.101G>C; p.R34P; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>T; p.R34L; 2:177234216-177234216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1597A>C; p.K533Q; 2:177231006-177231006	urinary_tract; bladder	carcinoma	Substitution - Missense
c.229G>A; p.D77N; 2:177234088-177234088	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation