Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.Y344F

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.Y344F
c.1031A>T
Surrounding Variants
1 paper
NM_000862.3
p.Y340F
c.1019A>T
2 papers
NM_000862.3
p.A339V
c.1016C>T
6 papers
NM_000862.3
p.L338L
c.1012C>T
1 paper
NM_000862.3
p.K352R
c.1055A>G
2 papers
NM_000862.3
p.T353M
c.1058C>T
1 paper
NM_000862.3
p.Q335*
c.1003C>T
2 papers
NM_000862.3
p.V326I
c.976G>A
1 paper
NM_000862.3
p.S323_N324ins1
c.969_970insGGT
1 paper
NM_000862.3
p.S323_N324ins2
c.969_970ins6
14 papers
NM_000862.3
p.T367N
c.1100C>A
1 paper
NM_000862.3
p.I319delFs
c.956delT
1 paper
NM_000862.3
p.R317H
c.950G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."