Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.G178A

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
2 papers
NM_000862.3
p.G178A
c.533G>C
Surrounding Variants
1 paper
NM_000862.3
p.N176N
c.528C>T
1 paper
NM_000862.3
p.W172G
c.514T>G
1 paper
NM_000862.3
p.R186*
c.556C>T
1 paper
NM_000862.3
p.P187_I190delins
c.561_568delinsAATGTATC
2 papers
NM_000862.3
p.A168T
c.502G>A
1 paper
NM_000862.3
p.A168P
c.502G>C
1 paper
NM_000862.3
p.I190L
c.568A>C
1 paper
NM_000862.3
p.I190V
c.568A>G
1 paper
NM_000862.3
p.K164N
c.492G>C
1 paper
NM_000862.3
p.K164N
c.492G>T
1 paper
NM_000862.3
p.G192W
c.574G>T
1 paper
NM_000862.3
p.E163*
c.487G>T
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