Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.V300L

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.V300L
c.898G>C
Surrounding Variants
1 paper
NM_000198.4
p.V300L
c.898G>T
3 papers
NM_000198.4
p.V299I
c.895G>A
1 paper
NM_000198.4
p.E298D
c.894A>C
1 paper
NM_000198.4
p.E298D
c.894A>T
1 paper
NM_000198.4
p.E298fs
c.892_893fs
1 paper
NM_000198.4
p.E298delFs
c.892delG
1 paper
NM_000198.4
p.L297L
c.889C>T
1 paper
NM_000198.4
p.L303L
c.909A>T
3 papers
NM_000198.4
p.L304P
c.911T>C
1 paper
NM_000198.4
p.S305R
c.913A>C
1 paper
NM_000198.4
p.S305R
c.915C>A
1 paper
NM_000198.4
p.S305R
c.915C>G
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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."