Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.A56V

HSD17B3

206 papers

RefSeq Summary

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor....

Pfam Domains

adh_shortaa 49–244UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 3

HGNC Alias Symbol

SDR12C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000197.2
p.A56V
c.167C>T
Surrounding Variants
13 papers
NM_000197.2
p.A56T
c.166G>A
1 paper
NM_000197.2
p.G57C
c.169G>T
1 paper
NM_000197.2
p.G55E
c.164G>A
1 paper
NM_000197.2
p.G55R
c.163G>A
1 paper
NM_000197.2
p.T54I
c.161C>T
1 paper
NM_000197.2
p.D58G
c.173A>G
7 papers
NM_000197.2
p.T54A
c.160A>G
7 papers
NM_000197.2
p.I60T
c.179T>C
1 paper
NM_000197.2
p.V52Splc
c.155-1G>A
1 paper
NM_000197.2
p.G61E
c.182G>A
2 papers
NM_000197.2
p.A63V
c.188C>T
2 papers
NM_000197.2
p.Y64C
c.191A>G
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