| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4286 |
Name | MITF |
Synonymous | MI|WS2|WS2A|bHLHe32;microphthalmia-associated transcription factor;MITF;microphthalmia-associated transcription factor |
Definition | class E basic helix-loop-helix protein 32 |
Position | 3p14.2-p14.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MITF | ||
PCGP somatic mutation [Top] | ||
There is no record for MITF | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.426G>C; p.L142F; |
NS | malignant_melanoma |
c.403T>G; p.L135V; |
skin; face | malignant_melanoma |
c.338G>T; p.C113F; |
liver | carcinoma; hepatocellular_carcinoma |
c.1160G>A; p.G387D; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.730G>A; p.G244R; |
skin | malignant_melanoma |
c.259G>A; p.E87K; |
skin; arm | malignant_melanoma |
c.260A>G; p.E87G; |
skin; arm | malignant_melanoma |
c.445C>T; p.P149S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.796G>T; p.E266*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1138G>A; p.D380N; |
skin; chest | malignant_melanoma |
c.1063G>A; p.G355R; |
urinary_tract; bladder | carcinoma |
c.339T>A; p.C113*; |
urinary_tract; bladder | carcinoma |
c.560-2A>G; p.?; |
liver | carcinoma |
c.1244C>T; p.T415M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.252T>C; p.C84C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1171delC; p.P391fs*20; |
eye; uveal_tract | malignant_melanoma; spindle |
c.835C>G; p.R279G; |
oesophagus | carcinoma; adenocarcinoma |
c.650G>T; p.R217I; |
oesophagus | carcinoma; adenocarcinoma |
c.174C>T; p.G58G; |
oesophagus | carcinoma; adenocarcinoma |
c.1112G>A; p.G371E; |
stomach | carcinoma; adenocarcinoma |
c.652T>G; p.F218V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.666C>T; p.D222D; |
skin; trunk | malignant_melanoma; nodular |
c.597G>T; p.L199L; |
lung | carcinoma; adenocarcinoma |
c.1067C>T; p.T356I; |
lung | carcinoma; adenocarcinoma |
c.1103_1104insA; p.M370fs*21; |
skin; neck | malignant_melanoma |
c.535C>A; p.P179T; |
autonomic_ganglia | neuroblastoma |
c.453G>T; p.S151S; |
liver | carcinoma |
c.809G>T; p.R270L; 3:70091212-70091212 |
ovary | carcinoma; serous_carcinoma |
c.968A>C; p.N323T; 3:70096797-70096797 |
ovary | carcinoma; serous_carcinoma |
c.1033_1041delGATGGCACC; p.D345_T347delDGT; |
ovary | carcinoma; serous_carcinoma |
c.242A>C; p.N81T; |
lung | carcinoma; adenocarcinoma |
c.1071G>C; p.G357G; |
lung | carcinoma; adenocarcinoma |
c.378A>G; p.L126L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1216C>A; p.R406R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.192_193GG>TT; p.V65L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.783G>A; p.Q261Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1010G>T; p.C337F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.809G>T; p.R270L; 3:70091212-70091212 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.810A>G; p.R270R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.828C>T; p.H276H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.154C>T; p.P52S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1032G>A; p.T344T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.789C>T; p.R263R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.328C>T; p.R110*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.273G>C; p.K91N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.712G>T; p.D238Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1217G>A; p.R406Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.208G>A; p.A70T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1024G>A; p.D342N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.816G>T; p.K272N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.657C>T; p.N219N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.173G>A; p.G58D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.333G>A; p.A111A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.242A>C; p.N81T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1141G>A; p.D381N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.749C>T; p.S250F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.967A>G; p.N323D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.967A>G; p.N323D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.210A>G; p.A70A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1194C>T; p.P398P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1237G>T; p.E413*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.48C>T; p.L16L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.808C>A; p.R270R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1245G>A; p.T415T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.412A>T; p.M138L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.968A>G; p.N323S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1195G>A; p.G399R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.967A>G; p.N323D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.525A>G; p.P175P; |
stomach | adenocarcinoma |
c.1246G>A; p.E416K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |