Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.E254delFs

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
2 papers
NM_000197.2
p.E254delFs
c.761_762delCT
Surrounding Variants
1 paper
NM_000197.2
p.S255L
c.764C>T
1 paper
NM_000197.2
p.E254fs
c.760_761fs
1 paper
NM_000197.2
p.V259I
c.775G>A
1 paper
NM_000197.2
p.T260S
c.778A>T
1 paper
NM_000197.2
p.T247_T260delFs
c.739_778del40
1 paper
NM_000197.2
p.A248V
c.743C>T
1 paper
NM_000197.2
p.G262V
c.785G>T
5 papers
NM_000197.2
p.V243_T245delFs
c.729_735del7
1 paper
NM_000197.2
p.I244R
c.731T>G
1 paper
NM_000197.2
p.N257_T265del9
c.769_794del27
1 paper
NM_000197.2
p.I244V
c.730A>G
3 papers
NM_000197.2
p.I244fs
c.730_731fs
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