Entrez Gene

Basic Information
Gene ID	5604
Name	MAP2K1
Synonymous	mitogen-activated protein kinase kinase 1;MAP2K1;mitogen-activated protein kinase kinase 1
Definition	ERK activator kinase 1\|MAPK/ERK kinase 1\|MAPKK 1\|MEK 1\|dual specificity mitogen-activated protein kinase kinase 1\|protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
Position	15q22.1-q22.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.998A>C; p.E333A; 15:66489252-66489252	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>A; p.P306H; 15:66487249-66487249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>T; p.F129F; 15:66436841-66436841	skin; trunk	malignant_melanoma	Substitution - coding silent
c.387C>A; p.F129L; 15:66436841-66436841	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 15:66481763-66481763	skin; back	malignant_melanoma	Substitution - Missense
c.383G>A; p.G128D; 15:66436837-66436837	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.383G>A; p.G128D; 15:66436837-66436837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.383G>A; p.G128D; 15:66436837-66436837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 15:66481763-66481763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.484C>T; p.P162S; 15:66443325-66443325	skin	malignant_melanoma	Substitution - Missense
c.484C>T; p.P162S; 15:66443325-66443325	skin	malignant_melanoma	Substitution - Missense
c.256T>G; p.S86A; 15:66435202-66435202	breast	carcinoma	Substitution - Missense
c.167A>C; p.Q56P; 15:66435113-66435113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>C; p.Q56P; 15:66435113-66435113	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.692C>T; p.S231L; 15:66481878-66481878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>C; p.Q56P; 15:66435113-66435113	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>C; p.Q56P; 15:66435113-66435113	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.285C>T; p.A95A; 15:66435231-66435231	skin	malignant_melanoma	Substitution - coding silent
c.633C>T; p.V211V; 15:66481819-66481819	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.383G>T; p.G128V; 15:66436837-66436837	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.383G>T; p.G128V; 15:66436837-66436837	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Substitution - Missense
c.363C>T; p.C121C; 15:66436817-66436817	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.304_309delGAGATC; p.E102_I103del; 15:66436758-66436763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.304_309delGAGATC; p.E102_I103del; 15:66436758-66436763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.767T>C; p.M256T; 15:66485063-66485063	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.740G>A; p.W247*; 15:66485036-66485036	skin	malignant_melanoma	Substitution - Nonsense
c.602G>A; p.R201H; 15:66481788-66481788	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>A; p.R201H; 15:66481788-66481788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1144A>C; p.N382H; 15:66490577-66490577	skin; lower_extremity	malignant_melanoma; nodular	Substitution - Missense
c.372G>A; p.P124P; 15:66436826-66436826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.308T>A; p.I103N; 15:66436762-66436762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1034A>C; p.N345T; 15:66489729-66489729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.292-10C>G; p.?; 15:66436736-66436736	skin; trunk	malignant_melanoma	Unknown
c.1099G>A; p.E367K; 15:66490532-66490532	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146G>T; p.R49L; 15:66435091-66435091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1006G>C; p.D336H; 15:66489260-66489260	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1181A>C; p.*394S; 15:66490614-66490614	skin	malignant_melanoma	Nonstop extension
c.332T>G; p.I111S; 15:66436786-66436786	skin	malignant_melanoma	Substitution - Missense
c.332T>G; p.I111S; 15:66436786-66436786	skin	malignant_melanoma	Substitution - Missense
c.333C>T; p.I111I; 15:66436787-66436787	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.140G>A; p.R47Q; 15:66435086-66435086	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.140G>A; p.R47Q; 15:66435086-66435086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>A; p.R47Q; 15:66435086-66435086	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Substitution - Missense
c.140G>A; p.R47Q; 15:66435086-66435086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.991A>C; p.S331R; 15:66489245-66489245	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.401A>G; p.Y134C; 15:66436855-66436855	lung	carcinoma	Substitution - Missense
c.401A>G; p.Y134C; 15:66436855-66436855	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.601C>T; p.R201C; 15:66481787-66481787	stomach	adenocarcinoma	Substitution - Missense
c.159T>G; p.F53L; 15:66435105-66435105	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.316G>A; p.A106T; 15:66436770-66436770	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Substitution - Missense
c.323G>A; p.R108Q; 15:66436777-66436777	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.722C>A; p.S241Y; 15:66485018-66485018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.529C>A; p.L177M; 15:66444668-66444668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>A; p.S241Y; 15:66485018-66485018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.529C>A; p.L177M; 15:66444668-66444668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.371C>A; p.P124Q; 15:66436825-66436825	skin; back	malignant_melanoma	Substitution - Missense
c.411C>T; p.G137G; 15:66436865-66436865	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.607G>A; p.E203K; 15:66481793-66481793	skin	malignant_melanoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	skin	malignant_melanoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	breast	carcinoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	skin; trunk	malignant_melanoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.E203K; 15:66481793-66481793	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin; upper_extremity	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	urinary_tract; bladder	carcinoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.790C>T; p.P264S; 15:66485086-66485086	skin; extremity	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.790C>T; p.P264S; 15:66485086-66485086	skin; extremity	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin; lower_extremity	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin; mucosal	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin; chest	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.370C>T; p.P124S; 15:66436824-66436824	skin	malignant_melanoma	Substitution - Missense
c.361T>A; p.C121S; 15:66436815-66436815	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.361T>A; p.C121S; 15:66436815-66436815	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.361T>A; p.C121S; 15:66436815-66436815	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Substitution - Missense
c.361T>A; p.C121S; 15:66436815-66436815	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.438G>C; p.M146I; 15:66436892-66436892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435144-66435144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435144-66435144	ovary	carcinoma	Substitution - Missense
c.669C>T; p.F223F; 15:66481855-66481855	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.669C>T; p.F223F; 15:66481855-66481855	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.199G>A; p.D67N; 15:66435144-66435144	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435144-66435144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.157T>C; p.F53L; 15:66435103-66435103	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.157T>C; p.F53L; 15:66435103-66435103	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.157T>C; p.F53L; 15:66435103-66435103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435145-66435145	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435145-66435145	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1023-8C>T; p.?; 15:66489710-66489710	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.199G>A; p.D67N; 15:66435145-66435145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.D67N; 15:66435145-66435145	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.685T>C; p.Y229H; 15:66481871-66481871	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.125_172del48; p.L42_K57del16; 15:66435071-66435118	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.171G>T; p.K57N; 15:66435116-66435116	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	skin	malignant_melanoma	Substitution - Missense
c.287G>A; p.R96K; 15:66435233-66435233	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	skin	malignant_melanoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.171G>T; p.K57N; 15:66435116-66435116	autonomic_ganglia; abdomen	neuroblastoma	Substitution - Missense
c.303_308delGGAGAT; p.E102_I103del; 15:66436757-66436762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.670G>A; p.V224M; 15:66481856-66481856	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.303_308delGGAGAT; p.E102_I103del; 15:66436757-66436762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.355C>T; p.H119Y; 15:66436809-66436809	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.273C>T; p.G91G; 15:66435219-66435219	skin	malignant_melanoma	Substitution - coding silent
c.449C>T; p.S150F; 15:66443290-66443290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>A; p.E73E; 15:66435165-66435165	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.168_182del15; p.K57_G61del; 15:66435114-66435128	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.608A>T; p.E203V; 15:66481794-66481794	pancreas	carcinoma	Substitution - Missense
c.236G>T; p.G79V; 15:66435182-66435182	breast	carcinoma	Substitution - Missense
c.302_307delTGGAGA; p.E102_I103delEI; 15:66436756-66436761	skin; abdomen	malignant_melanoma	Deletion - In frame
c.302_307delTGGAGA; p.E102_I103delEI; 15:66436756-66436761	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.371C>T; p.P124L; 15:66436825-66436825	skin	malignant_melanoma	Substitution - Missense
c.635G>A; p.S212N; 15:66481821-66481821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.159T>A; p.F53L; 15:66435105-66435105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.379G>A; p.V127M; 15:66436833-66436833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.399C>T; p.F133F; 15:66436853-66436853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.399C>T; p.F133F; 15:66436853-66436853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1180T>C; p.*394Q; 15:66490613-66490613	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.643C>T; p.L215F; 15:66481829-66481829	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>C; p.S327T; 15:66489234-66489234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.883A>C; p.R295R; 15:66485179-66485179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.362G>C; p.C121S; 15:66436816-66436816	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1052A>G; p.D351G; 15:66489747-66489747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.362G>C; p.C121S; 15:66436816-66436816	NS	malignant_melanoma	Substitution - Missense
c.872G>A; p.R291K; 15:66485168-66485168	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.395C>T; p.A132V; 15:66436849-66436849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.G79G; 15:66435183-66435183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.611T>C; p.I204T; 15:66481797-66481797	stomach	carcinoma; undifferentiated_adenocarcinoma	Substitution - Missense
c.704T>A; p.L235H; 15:66485000-66485000	urinary_tract; bladder	carcinoma	Substitution - Missense
c.157T>A; p.F53I; 15:66435103-66435103	skin	malignant_melanoma	Substitution - Missense
c.881G>A; p.G294E; 15:66485177-66485177	skin	malignant_melanoma	Substitution - Missense
c.146G>A; p.R49H; 15:66435092-66435092	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.238G>A; p.G80S; 15:66435184-66435184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.928A>C; p.I310L; 15:66487260-66487260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.170A>C; p.K57T; 15:66435116-66435116	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.405C>T; p.S135S; 15:66436859-66436859	breast	carcinoma	Substitution - coding silent
c.145C>T; p.R49C; 15:66435091-66435091	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Substitution - Missense
c.352C>T; p.L118L; 15:66436806-66436806	prostate	carcinoma	Substitution - coding silent
c.295_312del18; p.I99_K104del; 15:66436749-66436766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Deletion - In frame
c.772G>A; p.V258I; 15:66485068-66485068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12G>T; p.K4N; 15:66387359-66387359	breast	carcinoma	Substitution - Missense
c.1107G>C; p.V369V; 15:66490540-66490540	liver	carcinoma	Substitution - coding silent
c.299_307ATCTGGAGA>CTC; p.H100_I103>PL; 15:66436753-66436761	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Complex - deletion inframe
c.1176C>T; p.G392G; 15:66490609-66490609	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.158T>G; p.F53C; 15:66435103-66435103	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.159_173del15; p.F53_Q58>L; 15:66435105-66435119	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Langerhans_cell_histiocytosis	Complex - deletion inframe

COSMIC somatic mutation [Top]