Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.Y330C

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.Y330C
c.989A>G
Surrounding Variants
1 paper
NM_000198.4
p.S329F
c.986C>T
1 paper
NM_000198.4
p.S329delFs
c.985delT
2 papers
NM_000198.4
p.K332T
c.995A>C
1 paper
NM_000198.4
p.T327T
c.981C>A
2 papers
NM_000198.4
p.A333A
c.999T>A
1 paper
NM_000198.4
p.F326L
c.978C>A
1 paper
NM_000198.4
p.F326L
c.978C>G
12 papers
NM_000198.4
p.Q334*
c.1000C>T
1 paper
NM_000198.4
p.Q334P
c.1001A>C
1 paper
NM_000198.4
p.F326L
c.976T>C
15 papers
NM_000198.4
p.R335*
c.1003C>T
2 papers
NM_000198.4
p.R335Q
c.1004G>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."