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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

4286

Name

MITF

Synonymous

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

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.535C>A; p.P179T; 3:69949144-69949144

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.937C>T; p.R313W; 3:69964925-69964925

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.85C>T; p.R29W; 3:69937873-69937873

 breastcarcinomaSubstitution - Missense

c.1194C>T; p.P398P; 3:69965182-69965182

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1024G>A; p.D342N; 3:69965012-69965012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1237G>T; p.E413*; 3:69965225-69965225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.333G>A; p.A111A; 3:69939169-69939169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.210A>G; p.A70A; 3:69937998-69937998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.657C>T; p.N219N; 3:69956477-69956477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1010G>T; p.C337F; 3:69964998-69964998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1171delC; p.P391fs*20; 3:69965159-69965159

 eye; uveal_tractmalignant_melanoma; spindleDeletion - Frameshift

c.252T>C; p.C84C; 3:69938040-69938040

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1244C>T; p.T415M; 3:69965232-69965232

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1246G>A; p.E416K; 3:69965234-69965234

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.173G>A; p.G58D; 3:69937961-69937961

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.154C>T; p.P52S; 3:69937942-69937942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.968A>G; p.N323S; 3:69964956-69964956

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.48C>T; p.L16L; 3:69937836-69937836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.808C>A; p.R270R; 3:69959370-69959370

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.967A>G; p.N323D; 3:69964955-69964955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.967A>G; p.N323D; 3:69964955-69964955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.967A>G; p.N323D; 3:69964955-69964955

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.668G>A; p.R223H; 3:69956488-69956488

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1141G>A; p.D381N; 3:69965129-69965129

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>A; p.G399R; 3:69965183-69965183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1245G>A; p.T415T; 3:69965233-69965233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.816G>T; p.K272N; 3:69959378-69959378

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.242A>C; p.N81T; 3:69938030-69938030

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.712G>T; p.D238Y; 3:69959274-69959274

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.796G>T; p.E266*; 3:69959358-69959358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.796G>T; p.E266*; 3:69959358-69959358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.828C>T; p.H276H; 3:69959390-69959390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.412A>T; p.M138L; 3:69941302-69941302

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.236C>T; p.T79M; 3:69938024-69938024

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.S250F; 3:69959311-69959311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.208G>A; p.A70T; 3:69937996-69937996

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.810A>G; p.R270R; 3:69959372-69959372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1198G>A; p.A400T; 3:69965186-69965186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.445C>T; p.P149S; 3:69949054-69949054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1032G>A; p.T344T; 3:69965020-69965020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.809G>T; p.R270L; 3:69959371-69959371

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.273G>C; p.K91N; 3:69939109-69939109

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 3:69965205-69965205

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.789C>T; p.R263R; 3:69959351-69959351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.789C>T; p.R263R; 3:69959351-69959351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.652T>G; p.F218V; 3:69956472-69956472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.652T>G; p.F218V; 3:69956472-69956472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.328C>T; p.R110*; 3:69939164-69939164

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.20A>G; p.Y7C; 3:69936742-69936742

 livercarcinomaSubstitution - Missense

c.560-2A>G; p.?; 3:69951810-69951810

 livercarcinomaUnknown

c.560-2A>G; p.?; 3:69951810-69951810

 livercarcinomaUnknown

c.338G>T; p.C113F; 3:69939174-69939174

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.453G>T; p.S151S; 3:69949062-69949062

 livercarcinomaSubstitution - coding silent

c.597G>T; p.L199L; 3:69951849-69951849

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.192_193GG>TT; p.V65L; 3:69937980-69937981

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.242A>C; p.N81T; 3:69938030-69938030

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.783G>A; p.Q261Q; 3:69959345-69959345

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.378A>G; p.L126L; 3:69941268-69941268

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1071G>C; p.G357G; 3:69965059-69965059

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1216C>A; p.R406R; 3:69965204-69965204

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1067C>T; p.T356I; 3:69965055-69965055

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.426G>C; p.L142F; 3:69941316-69941316

 NSmalignant_melanomaSubstitution - Missense

c.174C>T; p.G58G; 3:69937962-69937962

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.650G>T; p.R217I; 3:69956470-69956470

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.835C>G; p.R279G; 3:69959397-69959397

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.968A>C; p.N323T; 3:69964956-69964956

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.809G>T; p.R270L; 3:69959371-69959371

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1033_1041delGATGGCACC; p.D345_T347delDGT; 3:69965021-69965029

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.272A>C; p.K91T; 3:69939108-69939108

 pancreascarcinomaSubstitution - Missense

c.730G>A; p.G244R; 3:69959292-69959292

 skinmalignant_melanomaSubstitution - Missense

c.666C>T; p.D222D; 3:69956486-69956486

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.591A>C; p.R197S; 3:69951843-69951843

 skinmalignant_melanomaSubstitution - Missense

c.710C>T; p.P237L; 3:69956530-69956530

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1176C>T; p.L392L; 3:69965164-69965164

 skinmalignant_melanomaSubstitution - coding silent

c.1103_1104insA; p.M370fs*21; 3:69965091-69965092

 skin; neckmalignant_melanomaInsertion - Frameshift

c.411G>C; p.L137F; 3:69941301-69941301

 skinmalignant_melanomaSubstitution - Missense

c.894C>T; p.S298S; 3:69964882-69964882

 skinmalignant_melanomaSubstitution - coding silent

c.259G>A; p.E87K; 3:69938047-69938047

 skin; armmalignant_melanomaSubstitution - Missense

c.1147C>T; p.L383F; 3:69965135-69965135

 skinmalignant_melanomaSubstitution - Missense

c.403T>G; p.L135V; 3:69941293-69941293

 skin; facemalignant_melanomaSubstitution - Missense

c.1138G>A; p.D380N; 3:69965126-69965126

 skin; chestmalignant_melanomaSubstitution - Missense

c.260A>G; p.E87G; 3:69938048-69938048

 skin; armmalignant_melanomaSubstitution - Missense

c.1112G>A; p.G371E; 3:69965100-69965100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.453G>A; p.S151S; 3:69949062-69949062

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.212C>T; p.P71L; 3:69938000-69938000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.525A>G; p.P175P; 3:69949134-69949134

 stomachadenocarcinomaSubstitution - coding silent

c.1169A>G; p.D390G; 3:69965157-69965157

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.836G>A; p.R279Q; 3:69959398-69959398

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.316A>G; p.N106D; 3:69939152-69939152

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.651A>C; p.R217S; 3:69956471-69956471

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.890T>C; p.L297P; 3:69964878-69964878

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.173G>A; p.G58D; 3:69937961-69937961

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.776G>A; p.R259Q; 3:69959338-69959338

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.248A>G; p.N83S; 3:69938036-69938036

 thyroidcarcinomaSubstitution - Missense

c.796G>T; p.E266*; 3:69959358-69959358

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.796G>T; p.E266*; 3:69959358-69959358

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.634+2T>G; p.?; 3:69951888-69951888

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.634+2T>G; p.?; 3:69951888-69951888

 upper_aerodigestive_tract; mouthcarcinomaUnknown

c.1063G>A; p.G355R; 3:69965051-69965051

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1063G>A; p.G355R; 3:69965051-69965051

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1063G>A; p.G355R; 3:69965051-69965051

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.48C>G; p.L16L; 3:69937836-69937836

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.48C>G; p.L16L; 3:69937836-69937836

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.637G>C; p.E213Q; 3:69956457-69956457

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1160G>A; p.G387D; 3:69965148-69965148

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.339T>A; p.C113*; 3:69939175-69939175

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.339T>A; p.C113*; 3:69939175-69939175

 urinary_tract; bladdercarcinomaSubstitution - Nonsense