Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.E28V

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.E28V
c.83A>T
Surrounding Variants
1 paper
NM_000862.3
p.E26V
c.77A>T
1 paper
NM_000862.3
p.V24L
c.70G>C
1 paper
NM_000862.3
p.V24L
c.70G>T
1 paper
NM_000862.3
p.R21H
c.62G>A
1 paper
NM_000862.3
p.L35F
c.105G>C
1 paper
NM_000862.3
p.L35F
c.105G>T
1 paper
NM_000862.3
p.D36Y
c.106G>T
1 paper
NM_000862.3
p.G12E
c.35G>A
2 papers
NM_000862.3
p.E46K
c.136G>A
1 paper
NM_000862.3
p.S48T
c.142T>A
1 paper
NM_000862.3
p.L7P
c.20T>C
1 paper
NM_000862.3
p.W4_G16Fs
c.10_47delinsTCCATCAFs
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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."