Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.P282R

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
3 papers
NM_000197.2
p.P282R
c.845C>G
Surrounding Variants
14 papers
NM_000197.2
p.P282L
c.845C>T
3 papers
NM_000197.2
p.L280P
c.839T>C
2 papers
NM_000197.2
p.W284*
c.851G>A
2 papers
NM_000197.2
p.W284*
c.852G>A
1 paper
NM_000197.2
p.S279G
c.835A>G
5 papers
NM_000197.2
p.Y287*
c.861C>G
6 papers
NM_000197.2
p.Y287*
c.861C>A
1 paper
NM_000197.2
p.S288C
c.862A>T
2 papers
NM_000197.2
p.G289R
c.865G>C
29 papers
NM_000197.2
p.G289S
c.865G>A
1 paper
NM_000197.2
p.G289A
c.866G>C
1 paper
NM_000197.2
p.A275V
c.824C>T
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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."