Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.W230*

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
9 papers
NM_000198.4
p.W230*
c.690G>A
Surrounding Variants
7 papers
NM_000198.4
p.W230*
c.689G>A
1 paper
NM_000198.4
p.A231D
c.692C>A
1 paper
NM_000198.4
p.W230fs
c.688_689fs
3 papers
NM_000198.4
p.H232D
c.694C>G
1 paper
NM_000198.4
p.A229delFs
c.687delC
2 papers
NM_000198.4
p.A229_A238del0
c.687_713del27
1 paper
NM_000198.4
p.V228M
c.682G>A
1 paper
NM_000198.4
p.L234P
c.701T>C
1 paper
NM_000198.4
p.G226_N227insFs
c.678_679insAA
1 paper
NM_000198.4
p.A235V
c.704C>T
1 paper
NM_000198.4
p.L236delFs
c.707delT
7 papers
NM_000198.4
p.V225D
c.674T>A
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