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

Basic Information

Gene ID

51144

Name

HSD17B12

Synonymous

KAR|SDR12C1;hydroxysteroid (17-beta) dehydrogenase 12;HSD17B12;hydroxysteroid (17-beta) dehydrogenase 12

Definition

17-beta-HSD 12|17-beta-hydroxysteroid dehydrogenase 12|17beta-HSD type 12|3-ketoacyl-CoA reductase|estradiol 17-beta-dehydrogenase 12|short chain dehydrogenase/reductase family 12C, member 1|steroid dehydrogenase homolog

Position

11p11.2

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for HSD17B12

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.D85Y; chr11:43775641-43775641

lungsquamous_cell_carcinoma; carcinoma

p.G63*; chr11:43772487-43772487

lungsquamous_cell_carcinoma; carcinoma

p.A71A; chr11:43775601-43775601

lungadenocarcinoma; carcinoma

p.D108V; chr11:43819909-43819909

lungadenocarcinoma; carcinoma


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