Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.L22S

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.L22S
c.65T>C
Surrounding Variants
1 paper
NM_000198.4
p.L22fs
c.64_65fs
1 paper
NM_000198.4
p.L22insFs
c.65dupT
1 paper
NM_000198.4
p.E24G
c.71A>G
3 papers
NM_000198.4
p.R20H
c.59G>A
1 paper
NM_000198.4
p.R20C
c.58C>T
7 papers
NM_000198.4
p.E25*
c.73G>T
1 paper
NM_000198.4
p.V19A
c.56T>C
2 papers
NM_000198.4
p.I18I
c.54C>T
3 papers
NM_000198.4
p.R17W
c.49A>T
1 paper
NM_000198.4
p.Q16*
c.46C>T
10 papers
NM_000198.4
p.G15D
c.44G>A
1 paper
NM_000198.4
p.G15A
c.44G>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."