Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.E44D

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.E44D
c.132G>C
Surrounding Variants
1 paper
NM_000198.4
p.E44D
c.132G>T
1 paper
NM_000198.4
p.E45K
c.133G>A
1 paper
NM_000198.4
p.R43K
c.128G>A
2 papers
NM_000198.4
p.K48Splc
c.142+1G>T
1 paper
NM_000198.4
p.E41*
c.121G>T
1 paper
NM_000198.4
p.K48Splc
c.142+2T>C
2 papers
NM_000198.4
p.K36*
c.106A>T
2 papers
NM_000198.4
p.D35N
c.103G>A
1 paper
NM_000198.4
p.L34L
c.102G>A
1 paper
NM_000198.4
p.K29K
c.87G>A
1 paper
NM_000198.4
p.K29N
c.87G>C
7 papers
NM_000198.4
p.E25*
c.73G>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."