Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.W171*

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
19 papers
NM_000198.4
p.W171*
c.513G>A
Surrounding Variants
20 papers
NM_000198.4
p.W171*
c.512G>A
1 paper
NM_000198.4
p.G170G
c.510G>C
2 papers
NM_000198.4
p.L173Q
c.518T>A
16 papers
NM_000198.4
p.L173R
c.518T>G
2 papers
NM_000198.4
p.N169K
c.507T>A
2 papers
NM_000198.4
p.N169K
c.507T>G
1 paper
NM_000198.4
p.K174*
c.520A>T
1 paper
NM_000198.4
p.K174T
c.521A>C
2 papers
NM_000198.4
p.A168delFs
c.503delC
3 papers
NM_000198.4
p.A168fs
c.502_503fs
1 paper
NM_000198.4
p.A167A
c.501G>A
21 papers
NM_000198.4
p.A167V
c.500C>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."