Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.C5S

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
2 papers
NM_000198.4
p.C5S
c.14G>C
Surrounding Variants
5 papers
NM_000198.4
p.C5*
c.15C>A
3 papers
NM_000198.4
p.C5S
c.13T>A
5 papers
NM_000198.4
p.L6F
c.16C>T
1 paper
NM_000198.4
p.S4S
c.12C>T
1 paper
NM_000198.4
p.S4C
c.10A>T
1 paper
NM_000198.4
p.W3*
c.9G>A
1 paper
NM_000198.4
p.W3*
c.8G>A
1 paper
NM_000198.4
p.T8A
c.22A>G
2 papers
NM_000198.4
p.G2V
c.5G>T
1 paper
NM_000198.4
p.M1I
c.3G>A
1 paper
NM_000198.4
p.G9_A10insL
c.25_29ins3
2 papers
NM_000198.4
p.M1T
c.2T>C
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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."