Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.T187fs

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.T187fs
c.559_560fs
Surrounding Variants
3 papers
NM_000198.4
p.T187fs
c.559_560fs
1 paper
NM_000198.4
p.T187I
c.560C>T
14 papers
NM_000198.4
p.P186L
c.557C>T
6 papers
NM_000198.4
p.P186insFs
c.558dupC
1 paper
NM_000198.4
p.R185S
c.555A>C
1 paper
NM_000198.4
p.R185S
c.555A>T
1 paper
NM_000198.4
p.R185K
c.554G>A
1 paper
NM_000198.4
p.R185_T187Fs
c.554_559delinsTGTGFs
1 paper
NM_000198.4
p.Y190H
c.568T>C
4 papers
NM_000198.4
p.Y190C
c.569A>G
1 paper
NM_000198.4
p.L184delFs
c.551delT
1 paper
NM_000198.4
p.G191E
c.572G>A
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