ONGene
Top
Scroll To Top
Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

4193

Name

MDM2

Synonymous

MDM2 proto-oncogene, E3 ubiquitin protein ligase;MDM2;MDM2 proto-oncogene, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase Mdm2|MDM2 oncogene, E3 ubiquitin protein ligase|Mdm2, p53 E3 ubiquitin protein ligase homolog|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein|double minute 2, human homolog of; p53-binding protein|oncoprotein Md

Position

12q14.3-q15

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.226A>C; p.K76Q; 12:68816863-68816863

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1258T>A; p.F420I; 12:68839613-68839613

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.4G>C; p.V2L; 12:68808481-68808481

 breastcarcinomaSubstitution - Missense

c.994C>T; p.R332C; 12:68839349-68839349

 breastcarcinomaSubstitution - Missense

c.706G>C; p.E236Q; 12:68835850-68835850

 central_nervous_system; braingliomaSubstitution - Missense

c.280G>A; p.V94M; 12:68816917-68816917

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.685-2A>G; p.?; 12:68835827-68835827

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.910T>C; p.S304P; 12:68836741-68836741

 central_nervous_system; braingliomaSubstitution - Missense

c.859T>C; p.Y287H; 12:68836690-68836690

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.765T>C; p.F255F; 12:68835909-68835909

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1238G>A; p.S413N; 12:68839593-68839593

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.212G>A; p.R71Q; 12:68816849-68816849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678G>A; p.S226S; 12:68828925-68828925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.678G>A; p.S226S; 12:68828925-68828925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.678G>A; p.S226S; 12:68828925-68828925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1194A>G; p.E398E; 12:68839549-68839549

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1154A>G; p.D385G; 12:68839509-68839509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1461A>G; p.P487P; 12:68839816-68839816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.890T>C; p.F297S; 12:68836721-68836721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.906A>C; p.E302D; 12:68836737-68836737

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.614T>C; p.L205P; 12:68828861-68828861

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.146C>A; p.A49E; 12:68813600-68813600

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.47C>T; p.T16I; 12:68809240-68809240

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.704G>A; p.S235N; 12:68835848-68835848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1393A>G; p.M465V; 12:68839748-68839748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1004G>T; p.W335L; 12:68839359-68839359

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.D261N; 12:68835925-68835925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.630G>T; p.E210D; 12:68828877-68828877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.701T>C; p.V234A; 12:68835845-68835845

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1483T>C; p.Y495H; 12:68839838-68839838

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.R189C; 12:68828812-68828812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1370T>C; p.V457A; 12:68839725-68839725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860A>G; p.Y287C; 12:68836691-68836691

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.812G>A; p.G271E; 12:68835956-68835956

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.861T>C; p.Y287Y; 12:68836692-68836692

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1393A>T; p.M465L; 12:68839748-68839748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.700G>T; p.V234L; 12:68835844-68835844

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1027G>A; p.D343N; 12:68839382-68839382

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.955delC; p.L321fs*52; 12:68839310-68839310

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.955delC; p.L321fs*52; 12:68839310-68839310

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.955delC; p.L321fs*52; 12:68839310-68839310

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1425G>T; p.K475N; 12:68839780-68839780

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1038A>C; p.E346D; 12:68839393-68839393

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.398G>A; p.C133Y; 12:68824402-68824402

 livercarcinomaSubstitution - Missense

c.566G>A; p.R189H; 12:68828813-68828813

 livercarcinomaSubstitution - Missense

c.566G>A; p.R189H; 12:68828813-68828813

 livercarcinomaSubstitution - Missense

c.810A>G; p.E270E; 12:68835954-68835954

 livercarcinomaSubstitution - coding silent

c.614T>A; p.L205Q; 12:68828861-68828861

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1354_1365del12; p.K452_C455delKNGC; 12:68839709-68839720

 livercarcinoma; hepatocellular_carcinomaDeletion - In frame

c.614T>A; p.L205Q; 12:68828861-68828861

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1291A>T; p.S431C; 12:68839646-68839646

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.437A>C; p.Q146P; 12:68824565-68824565

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1339T>A; p.C447S; 12:68839694-68839694

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.256G>T; p.D86Y; 12:68816893-68816893

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1409G>A; p.C470Y; 12:68839764-68839764

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>C; p.E421Q; 12:68839616-68839616

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.359-1G>T; p.?; 12:68824362-68824362

 lungcarcinoma; adenocarcinomaUnknown

c.1169A>G; p.Q390R; 12:68839524-68839524

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1395G>T; p.M465I; 12:68839750-68839750

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.843A>G; p.V281V; 12:68836674-68836674

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1003T>G; p.W335G; 12:68839358-68839358

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.662C>G; p.S221C; 12:68828909-68828909

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.664A>T; p.T222S; 12:68828911-68828911

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1335G>A; p.V445V; 12:68839690-68839690

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.844T>C; p.Y282H; 12:68836675-68836675

 pancreascarcinomaSubstitution - Missense

c.38C>G; p.S13C; 12:68809231-68809231

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.38C>G; p.S13C; 12:68809231-68809231

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1305T>G; p.S435R; 12:68839660-68839660

 prostatecarcinomaSubstitution - Missense

c.587C>T; p.S196F; 12:68828834-68828834

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609G>A; p.L203L; 12:68828856-68828856

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1164T>C; p.I388I; 12:68839519-68839519

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.780C>T; p.L260L; 12:68835924-68835924

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.853A>C; p.T285P; 12:68836684-68836684

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.583A>G; p.I195V; 12:68828830-68828830

 stomachadenocarcinomaSubstitution - Missense

c.840+7delT; p.?; 12:68835991-68835991

 stomachadenocarcinomaUnknown

c.840+7delT; p.?; 12:68835991-68835991

 stomachadenocarcinomaUnknown

c.671C>T; p.T224M; 12:68828918-68828918

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.22T>C; p.C8R; 12:68809215-68809215

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.494C>G; p.S165*; 12:68824622-68824622

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.840+7delT; p.?; 12:68835991-68835991

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.469C>T; p.H157Y; 12:68824597-68824597

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.469C>T; p.H157Y; 12:68824597-68824597

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.132A>G; p.L44L; 12:68813586-68813586

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1012G>A; p.E338K; 12:68839367-68839367

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1012G>A; p.E338K; 12:68839367-68839367

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense