Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.R80G

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.R80G
c.238C>G
Surrounding Variants
22 papers
NM_000197.2
p.R80W
c.238C>T
2 papers
NM_000197.2
p.R80L
c.239G>T
1 paper
NM_000197.2
p.R80P
c.239G>C
60 papers
NM_000197.2
p.R80Q
c.239G>A
1 paper
NM_000197.2
p.V75_R80insFs
c.224_240dup17
2 papers
NM_000197.2
p.T81M
c.242C>T
1 paper
NM_000197.2
p.V76V
c.228C>T
1 paper
NM_000197.2
p.K84K
c.252A>G
8 papers
NM_000197.2
p.N74T
c.221A>C
1 paper
NM_000197.2
p.L73delFs
c.218delA
1 paper
NM_000197.2
p.G72E
c.215G>A
1 paper
NM_000197.2
p.R80_A87del8
c.238_260del24
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."