Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.G129R

HSD3B2

249 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a cruci...

Pfam Domains

3Beta_HSDaa 6–287UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

HGNC Alias Symbol

SDR11E2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
21 papers
NM_000198.4
p.G129R
c.385G>C
Surrounding Variants
21 papers
NM_000198.4
p.G129R
c.385G>A
3 papers
NM_000198.4
p.V127E
c.380T>A
1 paper
NM_000198.4
p.E126*
c.376G>T
1 paper
NM_000198.4
p.S132S
c.396C>G
1 paper
NM_000198.4
p.I125T
c.374T>C
1 paper
NM_000198.4
p.Y133N
c.397T>A
1 paper
NM_000198.4
p.S124S
c.372C>T
1 paper
NM_000198.4
p.S124I
c.371G>T
4 papers
NM_000198.4
p.S124G
c.370A>G
1 paper
NM_000198.4
p.S124del1
c.370_371delAGC
2 papers
NM_000198.4
p.S123G
c.367A>G
5 papers
NM_000198.4
p.E135*
c.403G>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."