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

Basic Information

Gene ID

3292

Name

HSD17B1

Synonymous

EDH17B2|EDHB17|HSD17|SDR28C1;hydroxysteroid (17-beta) dehydrogenase 1;HSD17B1;hydroxysteroid (17-beta) dehydrogenase 1

Definition

17-beta-HSD 1|17-beta-hydroxysteroid dehydrogenase type 1|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 1|estradiol 17-beta-dehydrogenase-1|hydroxysteroid (17-beta) dehydrogenase 1 isoform|placental 17-beta-hydrox

Position

17q11-q21

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for HSD17B1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.K41R; chr17:40705166-40705166

lungadenocarcinoma; carcinoma

p.G286R; chr17:40706825-40706825

lungsquamous_cell_carcinoma; carcinoma

p.D113D; chr17:40705530-40705530

lungsquamous_cell_carcinoma; carcinoma


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