Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.L205P

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
10 papers
NM_000198.4
p.L205P
c.614T>C
Surrounding Variants
1 paper
NM_000198.4
p.N206D
c.616A>G
1 paper
NM_000198.4
p.A204D
c.611C>A
1 paper
NM_000198.4
p.N207delFs
c.620delA
1 paper
NM_000198.4
p.N207fs
c.619_620fs
1 paper
NM_000198.4
p.N207Y
c.619A>T
2 papers
NM_000198.4
p.N207N
c.621C>T
1 paper
NM_000198.4
p.E203K
c.607G>A
2 papers
NM_000198.4
p.G209R
c.625G>A
2 papers
NM_000198.4
p.G209R
c.625G>C
1 paper
NM_000198.4
p.I210V
c.628A>G
1 paper
NM_000198.4
p.I201_N202del2
c.601_605del6
8 papers
NM_000198.4
p.S213G
c.637A>G
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