Pediatric cancer gene database (Pedican) Home
Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

3156

Name

HMGCR

Synonymous

LDLCQ3;3-hydroxy-3-methylglutaryl-CoA reductase;HMGCR;3-hydroxy-3-methylglutaryl-CoA reductase

Definition

3-hydroxy-3-methylglutaryl CoA reductase (NADPH)|3-hydroxy-3-methylglutaryl-Coenzyme A reductase|HMG-CoA reductase|hydroxymethylglutaryl-CoA reductase

Position

5q13.3-q14

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for HMGCR

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

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

Disease (CancerType; ValidationStatus; SequencingType)

HMGCR_I100N; chr5; 74640091

 SUB; MISSENSE; T; T/A; SOMATICHYPO; VALID; WGS

HMGCR_G822S; chr5; 74655816

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

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.703C>G; p.L235V;

livercarcinoma; hepatocellular_carcinoma

c.145G>T; p.E49*;

livercarcinoma; hepatocellular_carcinoma

c.1922G>A; p.R641H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1487G>A; p.R496Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1079C>A; p.T360K;

oesophaguscarcinoma; adenocarcinoma

c.614A>G; p.Y205C;

livercarcinoma

c.2115T>G; p.S705S;

livercarcinoma

c.454G>T; p.E152*;

large_intestine; coloncarcinoma

c.1105_1107delTGT; p.C369delC;

large_intestine; coloncarcinoma; adenocarcinoma

c.1559C>T; p.S520F;

lungcarcinoma; adenocarcinoma

c.1646A>G; p.K549R;

lungcarcinoma; adenocarcinoma

c.1033G>A; p.E345K;

pancreascarcinoma; ductal_carcinoma

c.829C>G; p.P277A; 5:74682418-74682418

 ovarycarcinoma; serous_carcinoma

c.809A>T; p.H270L;

lungcarcinoma; adenocarcinoma

c.1987G>T; p.G663C;

lungcarcinoma; squamous_cell_carcinoma

c.1336G>A; p.E446K;

ovarycarcinoma; serous_carcinoma

c.2647T>C; p.C883R;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2546G>T; p.G849V;

lungcarcinoma; adenocarcinoma

c.870A>G; p.S290S;

lungcarcinoma; adenocarcinoma

c.1889G>T; p.R630L;

lungcarcinoma; adenocarcinoma

c.1062C>G; p.I354M;

breastcarcinoma

c.1768C>T; p.R590C;

large_intestine; coloncarcinoma; adenocarcinoma

c.500C>T; p.T167M;

large_intestine; coloncarcinoma; adenocarcinoma

c.339C>A; p.F113L;

large_intestine; coloncarcinoma; adenocarcinoma

c.2257G>T; p.A753S;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2519G>A; p.R840Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1580G>A; p.C527Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1846G>A; p.A616T;

endometriumcarcinoma; endometrioid_carcinoma

c.2047G>A; p.V683I;

endometriumcarcinoma; endometrioid_carcinoma

c.125A>C; p.K42T;

endometriumcarcinoma; endometrioid_carcinoma

c.769A>G; p.K257E;

endometriumcarcinoma; endometrioid_carcinoma

c.899G>T; p.R300I;

endometriumcarcinoma; endometrioid_carcinoma

c.1773C>T; p.G591G;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1332T>C; p.P444P;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2249A>G; p.N750S;

endometriumcarcinoma; endometrioid_carcinoma

c.2569T>C; p.L857L;

endometriumcarcinoma; endometrioid_carcinoma

c.2412G>A; p.T804T;

endometriumcarcinoma; endometrioid_carcinoma

c.2554T>C; p.S852P;

endometriumcarcinoma; endometrioid_carcinoma

c.379T>C; p.F127L;

endometriumcarcinoma; endometrioid_carcinoma

c.833_835delCTC; p.P279delP;

endometriumcarcinoma; endometrioid_carcinoma

c.485C>G; p.A162G;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1868A>C; p.D623A;

large_intestine; coloncarcinoma; adenocarcinoma

c.81G>T; p.L27L;

endometriumcarcinoma; endometrioid_carcinoma

c.582C>G; p.C194W;

endometriumcarcinoma; endometrioid_carcinoma

c.1047A>G; p.S349S;

endometriumcarcinoma; endometrioid_carcinoma

c.1807G>A; p.A603T;

endometriumcarcinoma; endometrioid_carcinoma

c.287G>A; p.G96D;

endometriumcarcinoma; endometrioid_carcinoma

c.1650A>T; p.E550D;

large_intestine; coloncarcinoma; adenocarcinoma

c.702G>A; p.Q234Q;

prostatecarcinoma; adenocarcinoma

c.1551T>C; p.Y517Y;

large_intestine; caecumcarcinoma; adenocarcinoma

c.357A>G; p.T119T;

breastcarcinoma

c.2014C>A; p.H672N;

skinmalignant_melanoma

c.830C>T; p.P277L;

stomachadenocarcinoma

')