Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.F314fs

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
3 papers
NM_000198.4
p.F314fs
c.940_941fs
Surrounding Variants
1 paper
NM_000198.4
p.P312fs
c.934_935fs
8 papers
NM_000198.4
p.R316C
c.946C>T
1 paper
NM_000198.4
p.Q311H
c.933A>C
1 paper
NM_000198.4
p.Q311H
c.933A>T
3 papers
NM_000198.4
p.P312delFs
c.934delC
2 papers
NM_000198.4
p.Q311R
c.932A>G
8 papers
NM_000198.4
p.Q311*
c.931C>T
4 papers
NM_000198.4
p.T318delFs
c.953delC
2 papers
NM_000198.4
p.T318fs
c.952_953fs
1 paper
NM_000198.4
p.T318R
c.953C>G
2 papers
NM_000198.4
p.V319delFs
c.956delT
2 papers
NM_000198.4
p.V319fs
c.955_956fs
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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."