Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.T227A

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.T227A
c.679A>G
Surrounding Variants
1 paper
NM_000197.2
p.T227N
c.680C>A
1 paper
NM_000197.2
p.L226P
c.677T>C
3 papers
NM_000197.2
p.P228L
c.683C>T
1 paper
NM_000197.2
p.L226_P228delFs
c.678_684del7
6 papers
NM_000197.2
p.V225M
c.673G>A
2 papers
NM_000197.2
p.Q224_V225Splc
c.673-1G>C
1 paper
NM_000197.2
p.Q224_V225Splc
c.673-1G>A
1 paper
NM_000197.2
p.Q224_V225Splc
c.673-2A>G
1 paper
NM_000197.2
p.S232P
c.694T>C
1 paper
NM_000197.2
p.S232Fs
c.694delinsCCCATAFs
2 papers
NM_000197.2
p.S232fs
c.694_695fs
20 papers
NM_000197.2
p.S232L
c.695C>T
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