Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.T220S

HSD3B1

167 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classe...

Pfam Domains

3Beta_HSDaa 7–288UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

HGNC Previous Symbol

HSDB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000862.3
p.T220S
c.659C>G
Surrounding Variants
1 paper
NM_000862.3
p.T220S
c.658A>T
1 paper
NM_000862.3
p.V224ins1
c.671_672insGCA
1 paper
NM_000862.3
p.Y225C
c.674A>G
1 paper
NM_000862.3
p.G227S
c.679G>A
1 paper
NM_000862.3
p.S213T
c.637T>A
1 paper
NM_000862.3
p.A230V
c.689C>T
2 papers
NM_000862.3
p.N209S
c.626A>G
1 paper
NM_000862.3
p.A232fs
c.694_695fs
1 paper
NM_000862.3
p.L235L
c.703C>T
1 paper
NM_000862.3
p.L237S
c.710T>C
1 paper
NM_000862.3
p.R238W
c.712A>T
1 paper
NM_000862.3
p.A239V
c.716C>T
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