Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.Y292Y

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.Y292Y
c.876T>C
Surrounding Variants
1 paper
NM_000862.3
p.W293L
c.878G>T
2 papers
NM_000862.3
p.L297L
c.889C>T
4 papers
NM_000862.3
p.F286L
c.858T>A
4 papers
NM_000862.3
p.F286L
c.858T>G
4 papers
NM_000862.3
p.F286L
c.856T>C
1 paper
NM_000862.3
p.I300V
c.898A>G
4 papers
NM_000862.3
p.R279H
c.836G>A
1 paper
NM_000862.3
p.R279C
c.835C>T
1 paper
NM_000862.3
p.G277S
c.829G>A
1 paper
NM_000862.3
p.E275Q
c.823G>C
1 paper
NM_000862.3
p.P313L
c.938C>T
1 paper
NM_000862.3
p.R317C
c.949C>T
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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."