Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.S322*

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.S322*
c.965C>A
Surrounding Variants
1 paper
NM_000198.4
p.S322*
c.965C>G
6 papers
NM_000198.4
p.N323D
c.967A>G
3 papers
NM_000198.4
p.N323K
c.969T>A
3 papers
NM_000198.4
p.N323K
c.969T>G
2 papers
NM_000198.4
p.L321fs
c.961_962fs
1 paper
NM_000198.4
p.T320T
c.960A>C
2 papers
NM_000198.4
p.T320insFs
c.959_960insC
2 papers
NM_000198.4
p.V319delFs
c.956delT
2 papers
NM_000198.4
p.V319fs
c.955_956fs
1 paper
NM_000198.4
p.F326L
c.976T>C
1 paper
NM_000198.4
p.T318R
c.953C>G
4 papers
NM_000198.4
p.T318delFs
c.953delC
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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."