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Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5604

Name

MAP2K1

Synonymous

MAPKK1|MEK1|MKK1|PRKMK1;mitogen-activated protein kinase kinase 1;MAP2K1;mitogen-activated protein kinase kinase 1

Definition

ERK activator kinase 1|MAP kinase 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

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for MAP2K1

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

MAP2K1_D67N; chr15; 66727483

 SUB; MISSENSE; G; G/A; SOMATICRHB; PUTATIVE-HQ; EXOME

MAP2K1_D67N; chr15; 66727483

 SUB; MISSENSE; G; G/A; SOMATICRHB; PUTATIVE-HQ; WGS

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.362G>C; p.C121S; 15:64516208-64516208

 NSmalignant_melanoma

c.602G>A; p.R201H;

endometriumcarcinoma; endometrioid_carcinoma

c.?; p.K57N;

lungcarcinoma; large_cell_carcinoma

c.?; p.K57N;

lungcarcinoma; non_small_cell_carcinoma

c.?; p.K57N;

lungcarcinoma; non_small_cell_carcinoma

c.?; p.D67N;

lungcarcinoma; non_small_cell_carcinoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.171G>T; p.K57N;

skinmalignant_melanoma

c.199G>A; p.D67N;

large_intestine; coloncarcinoma; adenocarcinoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.332T>G; p.I111S; 15:64516178-64516178

 skinmalignant_melanoma

c.332T>G; p.I111S; 15:64516178-64516178

 skinmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.171G>T; p.K57N;

lungcarcinoma; adenocarcinoma

c.167A>C; p.Q56P;

lungcarcinoma; adenocarcinoma

c.199G>A; p.D67N;

lungcarcinoma; adenocarcinoma

c.?; p.P124S;

skinmalignant_melanoma

c.?; p.K57N;

skinmalignant_melanoma

c.?; p.P124S;

skinmalignant_melanoma

c.157T>C; p.F53L;

haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphoma

c.?; p.P124L;

skinmalignant_melanoma

c.?; p.P124L;

skinmalignant_melanoma

c.?; p.P124S;

skinmalignant_melanoma

c.?; p.P124S;

skinmalignant_melanoma

c.?; p.P124L;

skinmalignant_melanoma

c.?; p.P124L;

skinmalignant_melanoma

c.?; p.P124L;

skinmalignant_melanoma

c.?; p.Q56P;

skinmalignant_melanoma

c.?; p.K57E;

skinmalignant_melanoma

c.?; p.Q56P;

skinmalignant_melanoma

c.?; p.E203K;

skinmalignant_melanoma

c.371C>T; p.P124L; 15:64516217-64516217

 skinmalignant_melanoma

c.1006G>C; p.D336H;

urinary_tract; bladdercarcinoma; transitional_cell_carcinoma

c.?; p.Y130C;

lungcarcinoma; adenocarcinoma

c.607G>A; p.E203K;

large_intestine; coloncarcinoma; adenocarcinoma

c.484C>T; p.P162S;

NSmalignant_melanoma

c.484C>T; p.P162S;

NSmalignant_melanoma

c.395C>T; p.A132V;

large_intestine; coloncarcinoma; adenocarcinoma

c.772G>A; p.V258I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1180T>C; p.*394Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.?; p.K59del;

skinmalignant_melanoma

c.?; p.K59del;

skinmalignant_melanoma

c.?; p.P387S;

skinmalignant_melanoma

c.?; p.P387S;

skinmalignant_melanoma

c.?; p.P387S;

skinmalignant_melanoma

c.?; p.P387S;

skinmalignant_melanoma

c.602G>A; p.R201H;

large_intestinecarcinoma; adenocarcinoma

c.607G>A; p.E203K;

large_intestinecarcinoma; adenocarcinoma

c.199G>A; p.D67N;

large_intestine; coloncarcinoma; adenocarcinoma

c.146G>T; p.R49L;

large_intestine; coloncarcinoma; adenocarcinoma

c.917C>A; p.P306H; 15:64566641-64566641

 large_intestine; coloncarcinoma; adenocarcinoma

c.199G>A; p.D67N;

ovarycarcinoma

c.401A>G; p.Y134C;

lungcarcinoma

c.401A>G; p.Y134C;

lungcarcinoma; large_cell_carcinoma

c.?; p.F129L;

large_intestine; coloncarcinoma; adenocarcinoma

c.387C>A; p.F129L; 15:64516233-64516233

 large_intestinecarcinoma; adenocarcinoma

c.1107G>C; p.V369V;

livercarcinoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skin; upper_extremitymalignant_melanoma

c.607G>A; p.E203K;

skin; head_neckmalignant_melanoma; superficial_spreading

c.1144A>C; p.N382H;

skin; lower_extremitymalignant_melanoma; nodular

c.607G>A; p.E203K;

skin; trunkmalignant_melanoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skin; lower_extremitymalignant_melanoma

c.333C>T; p.I111I;

lungcarcinoma; adenocarcinoma

c.991A>C; p.S331R;

lungcarcinoma; adenocarcinoma

c.302_307delTGGAGA; p.E102_I103delEI;

lungcarcinoma; adenocarcinoma

c.363C>T; p.C121C;

lungcarcinoma; adenocarcinoma

c.438G>C; p.M146I;

lungcarcinoma; adenocarcinoma

c.?; p.L115P;

breastcarcinoma

c.790C>T; p.P264S;

skin; extremitymalignant_melanoma

c.790C>T; p.P264S;

skin; extremitymalignant_melanoma

c.292-10C>G; p.?;

skin; trunkmalignant_melanoma

c.387C>T; p.F129F;

skin; trunkmalignant_melanoma

c.371C>A; p.P124Q;

skin; backmalignant_melanoma

c.370C>T; p.P124S;

skin; chestmalignant_melanoma

c.302_307delTGGAGA; p.E102_I103delEI;

skin; abdomenmalignant_melanoma

c.577C>T; p.P193S;

skin; backmalignant_melanoma

c.611T>C; p.I204T; 15:64561189-64561189

 stomachcarcinoma; undifferentiated_adenocarcinoma

c.140G>A; p.R47Q;

breastcarcinoma; ductal_carcinoma

c.199G>A; p.D67N;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.171G>T; p.K57N;

autonomic_ganglia; abdomenneuroblastoma

c.?; p.Q56P;

lungcarcinoma; non_small_cell_carcinoma

c.167A>C; p.Q56P;

stomachcarcinoma; diffuse_adenocarcinoma

c.383G>T; p.G128V;

lungcarcinoma; adenocarcinoma

c.767T>C; p.M256T;

lungcarcinoma; adenocarcinoma

c.361T>A; p.C121S;

lungcarcinoma; adenocarcinoma

c.323G>A; p.R108Q;

lungcarcinoma; squamous_cell_carcinoma

c.157T>C; p.F53L;

lungcarcinoma; adenocarcinoma

c.692C>T; p.S231L;

large_intestine; coloncarcinoma; adenocarcinoma

c.383G>A; p.G128D;

large_intestine; coloncarcinoma; adenocarcinoma

c.379G>A; p.V127M;

large_intestine; caecumcarcinoma; adenocarcinoma

c.998A>C; p.E333A;

large_intestine; rectumcarcinoma; adenocarcinoma

c.372G>A; p.P124P;

endometriumcarcinoma; endometrioid_carcinoma

c.883A>C; p.R295R;

endometriumcarcinoma; endometrioid_carcinoma

c.685T>C; p.Y229H;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.980G>C; p.S327T;

endometriumcarcinoma; endometrioid_carcinoma

c.928A>C; p.I310L;

endometriumcarcinoma; endometrioid_carcinoma

c.704T>A; p.L235H;

urinary_tract; bladdercarcinoma

c.370C>T; p.P124S;

large_intestine; coloncarcinoma; adenocarcinoma

c.607G>A; p.E203K;

breastcarcinoma

c.158T>G; p.F53C;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1176C>T; p.G392G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.352C>T; p.L118L;

prostatecarcinoma

c.370C>T; p.P124S;

skinmalignant_melanoma

c.370C>T; p.P124S;

skin; mucosalmalignant_melanoma

c.601C>T; p.R201C;

stomachadenocarcinoma

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