Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.V78I

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
2 papers
NM_000198.4
p.V78I
c.232G>A
Surrounding Variants
1 paper
NM_000198.4
p.S76L
c.227C>T
1 paper
NM_000198.4
p.V75I
c.223G>A
1 paper
NM_000198.4
p.V75_H80insFs
c.224_240dup17
2 papers
NM_000198.4
p.D74E
c.222C>A
2 papers
NM_000198.4
p.D74E
c.222C>G
1 paper
NM_000198.4
p.D74D
c.222C>T
22 papers
NM_000198.4
p.A82T
c.244G>A
2 papers
NM_000198.4
p.D74N
c.220G>A
7 papers
NM_000198.4
p.A82P
c.244G>C
6 papers
NM_000198.4
p.A82D
c.245C>A
1 paper
NM_000198.4
p.A82_C83insFs
c.246_247insG
1 paper
NM_000198.4
p.C72*
c.216C>A
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