Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.Q113L

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.Q113L
c.338A>T
Surrounding Variants
1 paper
NM_000198.4
p.A114delFs
c.340delG
1 paper
NM_000198.4
p.A114P
c.340G>C
1 paper
NM_000198.4
p.A114fs
c.340_341fs
1 paper
NM_000198.4
p.A114S
c.340G>T
2 papers
NM_000198.4
p.A114V
c.341C>T
1 paper
NM_000198.4
p.C111W
c.333T>G
1 paper
NM_000198.4
p.V116fs
c.346_347fs
13 papers
NM_000198.4
p.L108W
c.323T>G
2 papers
NM_000198.4
p.L107Q
c.320T>A
1 paper
NM_000198.4
p.L106delFs
c.318delA
2 papers
NM_000198.4
p.S123G
c.367A>G
1 paper
NM_000198.4
p.G103D
c.308G>A
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."