Entrez Gene

Basic Information
Gene ID	6416
Name	MAP2K4
Synonymous	mitogen-activated protein kinase kinase 4;MAP2K4;mitogen-activated protein kinase kinase 4
Definition	JNK-activated kinase 1\|JNK-activating kinase 1\|MAP kinase kinase 4\|MAPK/ERK kinase 4\|MAPKK 4\|MEK 4\|SAPK/ERK kinase 1\|c-Jun N-terminal kinase kinase 1\|dual specificity mitogen-activated protein kinase kinase 4\|stress-activated protein kinase kinase 1
Position	17p12
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.33.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.812C>T; p.A271V; 17:12113359-12113359	pancreas	carcinoma	Substitution - Missense
c.793_799delGGCTGTA; p.C266fs*8; 17:12113340-12113346	breast	carcinoma	Deletion - Frameshift
c.425A>T; p.Q142L; 17:12095606-12095606	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425A>T; p.Q142L; 17:12095606-12095606	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.873G>T; p.W291C; 17:12125353-12125353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.374G>T; p.G125V; 17:12081511-12081511	stomach	carcinoma	Substitution - Missense
c.997G>T; p.E333*; 17:12129244-12129244	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820A>G; p.R274G; 17:12125300-12125300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820A>G; p.R274G; 17:12125300-12125300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.1041-1G>A; p.?; 17:12139838-12139838	oesophagus	carcinoma; adenocarcinoma	Unknown
c.774T>C; p.I258I; 17:12113321-12113321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.1006_1007insTC; p.S339fs*25; 17:12129253-12129254	breast	carcinoma	Insertion - Frameshift
c.269C>T; p.S90F; 17:12081406-12081406	skin	malignant_melanoma	Substitution - Missense
c.296C>T; p.A99V; 17:12081433-12081433	large_intestine; colon	NS	Substitution - Missense
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.697T>G; p.S233A; 17:12113244-12113244	breast	carcinoma	Substitution - Missense
c.883A>T; p.I295F; 17:12125363-12125363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040+5G>A; p.?; 17:12129292-12129292	pancreas	carcinoma	Unknown
c.793G>T; p.G265C; 17:12113340-12113340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.495T>A; p.Y165*; 17:12095676-12095676	breast	carcinoma	Substitution - Nonsense
c.515_516insT; p.D173fs*1; 17:12107791-12107792	breast	carcinoma	Insertion - Frameshift
c.644C>G; p.A215G; 17:12110385-12110385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.656T>C; p.L219S; 17:12110397-12110397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>G; p.S84*; 17:12081388-12081388	breast	carcinoma	Substitution - Nonsense
c.960C>T; p.V320V; 17:12129207-12129207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.401G>A; p.R134Q; 17:12095582-12095582	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.277C>T; p.Q93*; 17:12081414-12081414	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1038_1039insAACTTG; p.L346_C347insNL; 17:12129285-12129286	breast	carcinoma	Insertion - In frame
c.277C>T; p.Q93*; 17:12081414-12081414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961G>A; p.V321M; 17:12129208-12129208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.701A>T; p.N234I; 17:12113248-12113248	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.701A>T; p.N234I; 17:12113248-12113248	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.966A>C; p.K322N; 17:12129213-12129213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.H79H; 17:12081374-12081374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1040G>A; p.C347Y; 17:12129287-12129287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>T; p.E141*; 17:12095602-12095602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1069A>C; p.K357Q; 17:12139867-12139867	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1167A>T; p.P389P; 17:12141227-12141227	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.205C>T; p.Q69*; 17:12054978-12054978	breast	carcinoma	Substitution - Nonsense
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119T>A; p.R373R; 17:12141179-12141179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.668_669insT; p.L223fs*22; 17:12110409-12110410	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.815C>T; p.P272L; 17:12125295-12125295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.860G>A; p.R287H; 17:12125340-12125340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>A; p.R287H; 17:12125340-12125340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746G>A; p.G249D; 17:12113293-12113293	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.444delT; p.L149fs*3; 17:12095625-12095625	breast	carcinoma	Deletion - Frameshift
c.841C>T; p.R281*; 17:12125321-12125321	pancreas	carcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.634-1G>A; p.?; 17:12110374-12110374	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.287A>T; p.D96V; 17:12081424-12081424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619A>T; p.K207*; 17:12107895-12107895	breast	carcinoma	Substitution - Nonsense
c.794G>A; p.G265D; 17:12113341-12113341	pancreas	carcinoma	Substitution - Missense
c.978G>A; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.P326P; 17:12129225-12129225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.910C>T; p.R304*; 17:12129157-12129157	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.910C>T; p.R304*; 17:12129157-12129157	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.927G>C; p.K309N; 17:12129174-12129174	testis	germ_cell_tumour	Substitution - Missense
c.219-2A>G; p.?; 17:12081354-12081354	stomach	carcinoma; adenocarcinoma	Unknown
c.742T>G; p.F248V; 17:12113289-12113289	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.533T>G; p.M178R; 17:12107809-12107809	pancreas	carcinoma	Substitution - Missense
c.589G>T; p.D197Y; 17:12107865-12107865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.P326S; 17:12129223-12129223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125R; 17:12081510-12081510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125R; 17:12081510-12081510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.842G>A; p.R281Q; 17:12125322-12125322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.746G>T; p.G249V; 17:12113293-12113293	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.929G>A; p.W310*; 17:12129176-12129176	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.929G>A; p.W310*; 17:12129176-12129176	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.633+1_633+2insT; p.?; 17:12107910-12107911	breast	carcinoma	Unknown
c.978G>C; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041-2A>G; p.?; 17:12139837-12139837	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.836C>T; p.A279V; 17:12125316-12125316	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.814C>T; p.P272S; 17:12125294-12125294	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.882delG; p.I295fs*23; 17:12125362-12125362	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.882delG; p.I295fs*23; 17:12125362-12125362	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.155C>T; p.P52L; 17:12054928-12054928	skin	malignant_melanoma	Substitution - Missense
c.817G>A; p.E273K; 17:12125297-12125297	breast	carcinoma	Substitution - Missense
c.868G>T; p.V290F; 17:12125348-12125348	breast	carcinoma	Substitution - Missense
c.218+1_218+2insT; p.?; 17:12054992-12054993	breast	carcinoma	Unknown
c.840A>G; p.S280S; 17:12125320-12125320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1154T>C; p.L385P; 17:12141214-12141214	breast	carcinoma	Substitution - Missense
c.817G>T; p.E273*; 17:12125297-12125297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.253G>A; p.G85R; 17:12081390-12081390	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949C>T; p.L317L; 17:12129196-12129196	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.473_474insC; p.Y160fs*14; 17:12095654-12095655	breast	carcinoma	Insertion - Frameshift
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	breast	carcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.686-1G>A; p.?; 17:12113232-12113232	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.928T>C; p.W310R; 17:12129175-12129175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	pancreas	carcinoma	Substitution - Missense
c.557A>G; p.D186G; 17:12107833-12107833	breast	carcinoma	Substitution - Missense
c.895G>T; p.E299*; 17:12129142-12129142	breast	carcinoma	Substitution - Nonsense
c.745G>C; p.G249R; 17:12113292-12113292	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1_1200del1200; p.0?; 17:12020887-12141260	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	breast	carcinoma; luminal_NS_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	breast	carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	pancreas	carcinoma; ductal_carcinoma	Whole gene deletion
c.335C>T; p.A112V; 17:12081472-12081472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.355A>G; p.M119V; 17:12081492-12081492	skin	malignant_melanoma	Substitution - Missense
c.783_784delAA; p.D263fs*4; 17:12113330-12113331	breast	carcinoma	Deletion - Frameshift
c.783_784delAA; p.D263fs*4; 17:12113330-12113331	breast	carcinoma	Deletion - Frameshift
c.835G>T; p.A279S; 17:12125315-12125315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>A; p.S280*; 17:12125319-12125319	breast	carcinoma	Substitution - Nonsense
c.771T>C; p.S257S; 17:12113318-12113318	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.839C>A; p.S280*; 17:12125319-12125319	breast	carcinoma; luminal_NS_carcinoma	Substitution - Nonsense
c.839C>A; p.S280*; 17:12125319-12125319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1091A>C; p.H364P; 17:12141151-12141151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.917C>G; p.P306R; 17:12129164-12129164	breast	carcinoma	Substitution - Missense
c.441G>T; p.M147I; 17:12095622-12095622	kidney	other; neoplasm	Substitution - Missense
c.480C>T; p.Y160Y; 17:12095661-12095661	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.836C>A; p.A279E; 17:12125316-12125316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043T>G; p.L348R; 17:12139841-12139841	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.677T>G; p.I226S; 17:12110418-12110418	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.602C>T; p.P201L; 17:12107878-12107878	skin	malignant_melanoma	Substitution - Missense
c.1166C>T; p.P389L; 17:12141226-12141226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.368C>A; p.P123Q; 17:12081505-12081505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829C>T; p.P277S; 17:12125309-12125309	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239G>A; p.S80N; 17:12081376-12081376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1086+1G>A; p.?; 17:12139885-12139885	breast	carcinoma	Unknown
c.1132G>A; p.A378T; 17:12141192-12141192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.599T>C; p.I200T; 17:12107875-12107875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814-1G>A; p.?; 17:12125293-12125293	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.962T>A; p.V321E; 17:12129209-12129209	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>A; p.E141K; 17:12095602-12095602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>T; p.E203*; 17:12107883-12107883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.945T>C; p.D315D; 17:12129192-12129192	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.335_336insT; p.Y113fs*19; 17:12081472-12081473	breast	carcinoma	Insertion - Frameshift
c.979C>T; p.Q327*; 17:12129226-12129226	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.754G>A; p.G252R; 17:12113301-12113301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228K; 17:12110424-12110424	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	liver	carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	pancreas	carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	liver	carcinoma	Substitution - Missense
c.871T>C; p.W291R; 17:12125351-12125351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663A>G; p.E221E; 17:12110404-12110404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.814-1G>T; p.?; 17:12125293-12125293	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1066C>T; p.P356S; 17:12139864-12139864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma; adenocarcinoma	Substitution - Nonsense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma	Substitution - Nonsense
c.929G>T; p.W310L; 17:12129176-12129176	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.770C>T; p.S257F; 17:12113317-12113317	skin	malignant_melanoma	Substitution - Missense
c.544T>C; p.S182P; 17:12107820-12107820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.770C>T; p.S257F; 17:12113317-12113317	breast	carcinoma	Substitution - Missense
c.310G>T; p.D104Y; 17:12081447-12081447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.759G>A; p.Q253Q; 17:12113306-12113306	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.714C>A; p.D238E; 17:12113261-12113261	skin	malignant_melanoma	Substitution - Missense
c.908G>T; p.G303V; 17:12129155-12129155	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.386_393+9del17; p.?; 17:12081523-12081539	breast	carcinoma	Unknown
c.908G>T; p.G303V; 17:12129155-12129155	pancreas	carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma	Substitution - Missense
c.1054G>T; p.E352*; 17:12139852-12139852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.436C>T; p.L146F; 17:12095617-12095617	skin	malignant_melanoma	Substitution - Missense
c.401G>T; p.R134L; 17:12095582-12095582	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1087-1G>C; p.?; 17:12141146-12141146	breast	carcinoma	Unknown
c.917C>A; p.P306H; 17:12129164-12129164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.891+1G>C; p.?; 17:12125372-12125372	lung	carcinoma; adenocarcinoma	Unknown
c.329G>A; p.R110Q; 17:12081466-12081466	pancreas	carcinoma	Substitution - Missense
c.973C>A; p.P325T; 17:12129220-12129220	urinary_tract; bladder	carcinoma	Substitution - Missense
c.946C>T; p.Q316*; 17:12129193-12129193	breast	carcinoma	Substitution - Nonsense
c.1092T>C; p.H364H; 17:12141152-12141152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.569_591del23; p.K190fs*47; 17:12107845-12107867	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.962T>C; p.V321A; 17:12129209-12129209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952_953delAC; p.Q319fs*11; 17:12129199-12129200	breast	carcinoma	Deletion - Frameshift
c.821G>T; p.R274I; 17:12125301-12125301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>T; p.S251I; 17:12113299-12113299	breast	carcinoma	Substitution - Missense
c.752G>T; p.S251I; 17:12113299-12113299	breast	carcinoma	Substitution - Missense
c.219-1G>C; p.?; 17:12081355-12081355	breast	carcinoma	Unknown
c.219-1G>C; p.?; 17:12081355-12081355	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.219-1G>C; p.?; 17:12081355-12081355	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1046C>T; p.T349M; 17:12139844-12139844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1023C>G; p.I341M; 17:12129270-12129270	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.891+2T>C; p.?; 17:12125373-12125373	breast	carcinoma	Unknown
c.891+2T>C; p.?; 17:12125373-12125373	stomach	carcinoma; adenocarcinoma	Unknown
c.752G>A; p.S251N; 17:12113299-12113299	skin	malignant_melanoma	Substitution - Missense
c.752G>A; p.S251N; 17:12113299-12113299	skin	malignant_melanoma	Substitution - Missense
c.752G>A; p.S251N; 17:12113299-12113299	salivary_gland	carcinoma; myoepithelial_carcinoma	Substitution - Missense
c.513+2T>C; p.?; 17:12095696-12095696	breast	carcinoma; lobular_carcinoma	Unknown
c.1047G>A; p.T349T; 17:12139845-12139845	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200+92G>A; p.?; 17:12141329-12141329	large_intestine	carcinoma; adenocarcinoma	Unknown
c.409G>A; p.V137M; 17:12095590-12095590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.442G>T; p.D148Y; 17:12095623-12095623	kidney	other; neoplasm	Substitution - Missense
c.328C>T; p.R110*; 17:12081465-12081465	stomach	carcinoma	Substitution - Nonsense
c.1153C>G; p.L385V; 17:12141213-12141213	breast	carcinoma	Substitution - Missense
c.328C>T; p.R110*; 17:12081465-12081465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.328C>T; p.R110*; 17:12081465-12081465	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.685+2T>C; p.?; 17:12110428-12110428	large_intestine; colon	carcinoma; adenocarcinoma	Unknown

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]