Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.K84K

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.K84K
c.252A>G
Surrounding Variants
2 papers
NM_000197.2
p.T81M
c.242C>T
1 paper
NM_000197.2
p.R80_A87del8
c.238_260del24
1 paper
NM_000197.2
p.V75_R80insFs
c.224_240dup17
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
22 papers
NM_000197.2
p.R80W
c.238C>T
1 paper
NM_000197.2
p.R80G
c.238C>G
2 papers
NM_000197.2
p.E86_A89del0
c.257_265del9
1 paper
NM_000197.2
p.V76V
c.228C>T
5 papers
NM_000197.2
p.E93K
c.277G>A
5 papers
NM_000197.2
p.E93Splc
c.277+2T>G
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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."