Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.A203E

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
6 papers
NM_000197.2
p.A203E
c.608C>A
Surrounding Variants
17 papers
NM_000197.2
p.A203V
c.608C>T
3 papers
NM_000197.2
p.A203T
c.607G>A
1 paper
NM_000197.2
p.A203A
c.609G>A
5 papers
NM_000197.2
p.K202_A203Splc
c.607-1G>A
14 papers
NM_000197.2
p.V205E
c.614T>A
1 paper
NM_000197.2
p.C206G
c.616T>G
9 papers
NM_000197.2
p.C206*
c.618C>A
1 paper
NM_000197.2
p.A207E
c.620C>A
5 papers
NM_000197.2
p.F208I
c.622T>A
2 papers
NM_000197.2
p.S209P
c.625T>C
6 papers
NM_000197.2
p.L212Q
c.635T>A
1 paper
NM_000197.2
p.Q213P
c.638A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."