Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.L279H

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.L279H
c.836T>A
Surrounding Variants
1 paper
NM_000198.4
p.R278H
c.833G>A
1 paper
NM_000198.4
p.S281_R282del2
c.841_845del6
1 paper
NM_000198.4
p.L277fs
c.829_830fs
1 paper
NM_000198.4
p.L277delFs
c.829delC
1 paper
NM_000198.4
p.W283fs
c.847_848fs
2 papers
NM_000198.4
p.W283delFs
c.849delG
1 paper
NM_000198.4
p.W283*
c.848G>A
1 paper
NM_000198.4
p.W283*
c.849G>A
6 papers
NM_000198.4
p.S284R
c.850A>C
1 paper
NM_000198.4
p.S284I
c.851G>T
6 papers
NM_000198.4
p.S284R
c.852C>A
6 papers
NM_000198.4
p.S284R
c.852C>G
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."