Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.P313L

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.P313L
c.938C>T
Surrounding Variants
1 paper
NM_000862.3
p.R317C
c.949C>T
1 paper
NM_000862.3
p.R317H
c.950G>A
1 paper
NM_000862.3
p.R317P
c.950G>C
1 paper
NM_000862.3
p.I319delFs
c.956delT
1 paper
NM_000862.3
p.S323_N324ins1
c.969_970insGGT
1 paper
NM_000862.3
p.S323_N324ins2
c.969_970ins6
2 papers
NM_000862.3
p.V326I
c.976G>A
1 paper
NM_000862.3
p.I300V
c.898A>G
2 papers
NM_000862.3
p.L297L
c.889C>T
1 paper
NM_000862.3
p.W293L
c.878G>T
1 paper
NM_000862.3
p.Y292Y
c.876T>C
1 paper
NM_000862.3
p.Q335*
c.1003C>T
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