Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.N130D

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.N130D
c.388A>G
Surrounding Variants
23 papers
NM_000197.2
p.N130S
c.389A>G
1 paper
NM_000197.2
p.V129A
c.386T>C
1 paper
NM_000197.2
p.V129F
c.385G>T
6 papers
NM_000197.2
p.G133R
c.397G>C
6 papers
NM_000197.2
p.G133R
c.397G>A
1 paper
NM_000197.2
p.G133A
c.398G>C
2 papers
NM_000197.2
p.L139fs
c.415_416fs
1 paper
NM_000197.2
p.L139L
c.417C>T
1 paper
NM_000197.2
p.L138_L139del1
c.414_416delAGA
1 paper
NM_000197.2
p.D148H
c.442G>C
1 paper
NM_000197.2
p.E149Q
c.445G>C
1 paper
NM_000197.2
p.Q151R
c.452A>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."