Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.S65L

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
14 papers
NM_000197.2
p.S65L
c.194C>T
Surrounding Variants
1 paper
NM_000197.2
p.S65A
c.193T>G
1 paper
NM_000197.2
p.S65S
c.195G>A
2 papers
NM_000197.2
p.Y64C
c.191A>G
1 paper
NM_000197.2
p.E67K
c.199G>A
2 papers
NM_000197.2
p.A63V
c.188C>T
1 paper
NM_000197.2
p.E67V
c.200A>T
1 paper
NM_000197.2
p.E67_L68Splc
c.201+1G>A
1 paper
NM_000197.2
p.G61E
c.182G>A
7 papers
NM_000197.2
p.I60T
c.179T>C
1 paper
NM_000197.2
p.D58G
c.173A>G
1 paper
NM_000197.2
p.G57C
c.169G>T
1 paper
NM_000197.2
p.A56V
c.167C>T
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