Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.C83C

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
1 paper
NM_000198.4
p.C83C
c.249T>C
Surrounding Variants
1 paper
NM_000198.4
p.I84N
c.251T>A
1 paper
NM_000198.4
p.A82_C83insFs
c.246_247insG
6 papers
NM_000198.4
p.A82D
c.245C>A
22 papers
NM_000198.4
p.A82T
c.244G>A
7 papers
NM_000198.4
p.A82P
c.244G>C
1 paper
NM_000198.4
p.G89R
c.265G>C
2 papers
NM_000198.4
p.V78I
c.232G>A
1 paper
NM_000198.4
p.S76L
c.227C>T
1 paper
NM_000198.4
p.H92delFs
c.274_275delCA
1 paper
NM_000198.4
p.H92D
c.274C>G
2 papers
NM_000198.4
p.H92fs
c.274_275fs
1 paper
NM_000198.4
p.V75I
c.223G>A
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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."