Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.S305R

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.S305R
c.915C>A
Surrounding Variants
1 paper
NM_000198.4
p.S305R
c.915C>G
1 paper
NM_000198.4
p.S305R
c.913A>C
1 paper
NM_000198.4
p.I307insFs
c.920_921insT
3 papers
NM_000198.4
p.L304P
c.911T>C
1 paper
NM_000198.4
p.L303L
c.909A>T
6 papers
NM_000198.4
p.Y308*
c.924C>A
6 papers
NM_000198.4
p.Y308*
c.924C>G
2 papers
NM_000198.4
p.S309T
c.925T>A
8 papers
NM_000198.4
p.Q311*
c.931C>T
2 papers
NM_000198.4
p.Q311R
c.932A>G
1 paper
NM_000198.4
p.V300L
c.898G>C
1 paper
NM_000198.4
p.V300L
c.898G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."