Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.E142K

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.E142K
c.424G>A
Surrounding Variants
1 paper
NM_000198.4
p.H141H
c.423C>T
1 paper
NM_000198.4
p.E143K
c.427G>A
2 papers
NM_000198.4
p.E143_E144insFs
c.429_430insAA
1 paper
NM_000198.4
p.G140G
c.420C>G
1 paper
NM_000198.4
p.G140D
c.419G>A
1 paper
NM_000198.4
p.G140R
c.418G>C
2 papers
NM_000198.4
p.E144fs
c.430_431fs
1 paper
NM_000198.4
p.P145S
c.433C>T
1 paper
NM_000198.4
p.E147D
c.441A>T
1 paper
NM_000198.4
p.T149S
c.445A>T
5 papers
NM_000198.4
p.E135*
c.403G>T
1 paper
NM_000198.4
p.W150S
c.449G>C
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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."