Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
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:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for HMGCR

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.G849V; chr5:74655898-74655898

lungadenocarcinoma; carcinoma

p.R630L; chr5:74652176-74652176

lungadenocarcinoma; carcinoma

p.K549R; chr5:74650963-74650963

lungadenocarcinoma; carcinoma

p.S520F; chr5:74650518-74650518

lungadenocarcinoma; carcinoma

p.G663C; chr5:74654482-74654482

lungsquamous_cell_carcinoma; carcinoma

p.S290S; chr5:74646703-74646703

lungadenocarcinoma; carcinoma

p.G587W; chr5:74651226-74651226

lungsquamous_cell_carcinoma; carcinoma

p.H270L; chr5:74646642-74646642

lungadenocarcinoma; carcinoma


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