Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.V248delins

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.V248delins
c.742_743delinsAA
Surrounding Variants
1 paper
NM_000198.4
p.V248fs
c.742_743fs
1 paper
NM_000198.4
p.V248fs
c.742_743fs
1 paper
NM_000198.4
p.V248_R249Fs
c.742_746delinsAACTFs
16 papers
NM_000198.4
p.R249*
c.745C>T
6 papers
NM_000198.4
p.G250V
c.749G>T
1 paper
NM_000198.4
p.G250G
c.750T>C
12 papers
NM_000198.4
p.A245P
c.733G>C
12 papers
NM_000198.4
p.Y253N
c.757T>A
1 paper
NM_000198.4
p.Y253D
c.757T>G
1 paper
NM_000198.4
p.P242R
c.725C>G
1 paper
NM_000198.4
p.Y253*
c.759T>A
1 paper
NM_000198.4
p.Y253*
c.759T>G
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