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

Basic Information

Gene ID

4193

Name

MDM2

Synonymous

ACTFS|HDMX|hdm2;Mdm2 p53 binding protein homolog (mouse);MDM2;Mdm2 p53 binding protein homolog (mouse)

Definition

E3 ubiquitin-protein ligase Mdm2|MDM2 variant FB28|MDM2 variant FB30|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein|double minute 2, human homolog of; p53-binding protein|oncoprotein Mdm2

Position

12q14.3-q15

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for MDM2

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

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

Disease (CancerType; ValidationStatus; SequencingType)

MDM2_E1_UTR_5; chr12; 69202015

 SUB; UTR_5; T; T/G; SOMATICRHB; PUTATIVE-HQ; TARGETED_SEQUENCING

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.1354_1365del12; p.K452_C455delKNGC;

livercarcinoma; hepatocellular_carcinoma

c.1003T>G; p.W335G; 12:67519405-67519405

 lungcarcinoma; adenocarcinoma

c.1395G>T; p.M465I; 12:67519797-67519797

 lungcarcinoma; adenocarcinoma

c.701T>C; p.V234A;

large_intestine; coloncarcinoma; adenocarcinoma

c.565C>T; p.R189C;

large_intestine; coloncarcinoma; adenocarcinoma

c.844T>C; p.Y282H;

pancreascarcinoma

c.614T>A; p.L205Q;

livercarcinoma; hepatocellular_carcinoma

c.614T>A; p.L205Q;

livercarcinoma; hepatocellular_carcinoma

c.664A>T; p.T222S;

oesophaguscarcinoma; adenocarcinoma

c.566G>A; p.R189H;

livercarcinoma

c.47C>T; p.T16I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1409G>A; p.C470Y;

lungcarcinoma; adenocarcinoma

c.662C>G; p.S221C;

lungcarcinoma; adenocarcinoma

c.843A>G; p.V281V;

lungcarcinoma; adenocarcinoma

c.859T>C; p.Y287H; 12:67516737-67516737

 central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.859T>C; p.Y287H; 12:67516737-67516737

 central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.359-1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.1335G>A; p.V445V;

ovarycarcinoma; serous_carcinoma

c.437A>C; p.Q146P;

lungcarcinoma; squamous_cell_carcinoma

c.1339T>A; p.C447S;

lungcarcinoma; squamous_cell_carcinoma

c.256G>T; p.D86Y;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.1261G>C; p.E421Q;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.994C>T; p.R332C;

breastcarcinoma

c.955delC; p.L321fs*52;

large_intestine; coloncarcinoma; adenocarcinoma

c.1038A>C; p.E346D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1483T>C; p.Y495H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.630G>T; p.E210D;

large_intestine; coloncarcinoma; adenocarcinoma

c.1370T>C; p.V457A;

large_intestine; coloncarcinoma; adenocarcinoma

c.906A>C; p.E302D;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.678G>A; p.S226S;

endometriumcarcinoma; endometrioid_carcinoma

c.765T>C; p.F255F;

endometriumcarcinoma; endometrioid_carcinoma

c.1393A>G; p.M465V;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1393A>T; p.M465L;

large_intestine; coloncarcinoma; adenocarcinoma

c.860A>G; p.Y287C;

large_intestine; coloncarcinoma; adenocarcinoma

c.678G>A; p.S226S;

endometriumcarcinoma; endometrioid_carcinoma

c.1461A>G; p.P487P;

endometriumcarcinoma; endometrioid_carcinoma

c.1154A>G; p.D385G;

endometriumcarcinoma; endometrioid_carcinoma

c.1194A>G; p.E398E;

endometriumcarcinoma; endometrioid_carcinoma

c.212G>A; p.R71Q;

endometriumcarcinoma; endometrioid_carcinoma

c.132A>G; p.L44L;

urinary_tract; bladdercarcinoma

c.781G>A; p.D261N;

large_intestine; coloncarcinoma; adenocarcinoma

c.861T>C; p.Y287Y;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1027G>A; p.D343N;

large_intestine; caecumcarcinoma; adenocarcinoma

c.890T>C; p.F297S;

endometriumcarcinoma; endometrioid_carcinoma

c.1238G>A; p.S413N;

endometriumcarcinoma; endometrioid_carcinoma

c.678G>A; p.S226S;

endometriumcarcinoma; endometrioid_carcinoma

c.1004G>T; p.W335L;

large_intestine; coloncarcinoma; adenocarcinoma

c.4G>C; p.V2L;

breastcarcinoma

c.1305T>G; p.S435R;

prostatecarcinoma

c.146C>A; p.A49E;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.840+7delt; p.?;

stomachadenocarcinoma

c.583A>G; p.I195V;

stomachadenocarcinoma

c.840+7delt; p.?;

stomachadenocarcinoma

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