Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6715

Name

SRD5A1

Synonymous

S5AR 1;steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1);SRD5A1;steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Definition

3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1|3-oxo-5-alpha-steroid 4-dehydrogenase 1|5-alpha reductase|SR type 1|steroid 5-alpha-reductase 1|steroid 5-alpha-reductase type I

Position

5p15

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SRD5A1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.A222V; chr5:6663031-6663031

lungadenocarcinoma; carcinoma

p.?; chr5:6668313-6668313

lungsquamous_cell_carcinoma; carcinoma

p.G108A; chr5:6651984-6651984

lungsquamous_cell_carcinoma; carcinoma

p.L211M; chr5:6662997-6662997

lungadenocarcinoma; carcinoma

p.?; chr5:6652125-6652125

lungsquamous_cell_carcinoma; carcinoma

p.G109*; chr5:6651986-6651986

lungadenocarcinoma; carcinoma

p.A4A; chr5:6633701-6633701

lungsquamous_cell_carcinoma; carcinoma

p.A120A; chr5:6652021-6652021

lungsquamous_cell_carcinoma; carcinoma

p.S215F; chr5:6663010-6663010

lungadenocarcinoma; carcinoma


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