Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.E354V

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.E354V
c.1061A>T
Surrounding Variants
6 papers
NM_000198.4
p.W355R
c.1063T>A
6 papers
NM_000198.4
p.W355R
c.1063T>C
7 papers
NM_000198.4
p.W355*
c.1064G>A
7 papers
NM_000198.4
p.W355*
c.1065G>A
1 paper
NM_000198.4
p.W355C
c.1065G>C
1 paper
NM_000198.4
p.W355C
c.1065G>T
1 paper
NM_000198.4
p.T352T
c.1056C>G
1 paper
NM_000198.4
p.T352N
c.1055C>A
1 paper
NM_000198.4
p.T352delins
c.1055_1056delinsAA
1 paper
NM_000198.4
p.L359V
c.1075C>G
2 papers
NM_000198.4
p.L359P
c.1076T>C
1 paper
NM_000198.4
p.D361Y
c.1081G>T
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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."