Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.Y156H

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.Y156H
c.466T>C
Surrounding Variants
2 papers
NM_000198.4
p.P155P
c.465G>A
8 papers
NM_000198.4
p.P155L
c.464C>T
1 paper
NM_000198.4
p.Y154*
c.462C>A
1 paper
NM_000198.4
p.Y154*
c.462C>G
1 paper
NM_000198.4
p.P153L
c.458C>T
1 paper
NM_000198.4
p.T152A
c.454A>G
2 papers
NM_000198.4
p.A161P
c.481G>C
1 paper
NM_000198.4
p.A161D
c.482C>A
3 papers
NM_000198.4
p.P151_P155del0
c.453_464del12
1 paper
NM_000198.4
p.W150S
c.449G>C
1 paper
NM_000198.4
p.E162V
c.485A>T
1 paper
NM_000198.4
p.K163_A167del5
c.487_500del15
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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."