Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.R240Q

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.R240Q
c.719G>A
Surrounding Variants
1 paper
NM_000198.4
p.R240R
c.718C>A
1 paper
NM_000198.4
p.D241N
c.721G>A
1 paper
NM_000198.4
p.P242R
c.725C>G
1 paper
NM_000198.4
p.L236F
c.708G>C
1 paper
NM_000198.4
p.L236F
c.708G>T
17 papers
NM_000198.4
p.L236S
c.707T>C
1 paper
NM_000198.4
p.L236delFs
c.707delT
12 papers
NM_000198.4
p.A245P
c.733G>C
1 paper
NM_000198.4
p.A235V
c.704C>T
1 paper
NM_000198.4
p.L234P
c.701T>C
1 paper
NM_000198.4
p.V248fs
c.742_743fs
1 paper
NM_000198.4
p.V248delins
c.742_743delinsAA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."