Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.I244R

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.I244R
c.731T>G
Surrounding Variants
1 paper
NM_000197.2
p.I244V
c.730A>G
3 papers
NM_000197.2
p.I244fs
c.730_731fs
3 papers
NM_000197.2
p.V243fs
c.727_728fs
5 papers
NM_000197.2
p.V243_T245delFs
c.729_735del7
1 paper
NM_000197.2
p.A248V
c.743C>T
1 paper
NM_000197.2
p.L239R
c.716T>G
1 paper
NM_000197.2
p.Y238C
c.713A>G
1 paper
NM_000197.2
p.K237R
c.710A>G
1 paper
NM_000197.2
p.M235T
c.704T>C
12 papers
NM_000197.2
p.M235V
c.703A>G
1 paper
NM_000197.2
p.E254fs
c.760_761fs
1 paper
NM_000197.2
p.A234S
c.700G>T
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