Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.L32R

SRD5A3

93 papers

RefSeq Summary

The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) fro...

Pfam Domains

Steroid_dhaa 158–318UCSC3-oxo-5-alpha-steroid 4-dehydrogenase

Gene Aliases

HGNC Name

steroid 5 alpha-reductase 3

HGNC Alias Symbols

FLJ13352; SRD5A2L; SRD5A2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024592.5
p.L32R
c.95T>G
Surrounding Variants
1 paper
NM_024592.5
p.L28L
c.84G>C
1 paper
NM_024592.5
p.P36P
c.108G>T
1 paper
NM_024592.5
p.L27insFs
c.79_80ins4
1 paper
NM_024592.5
p.L27fs
c.79_80fs
1 paper
NM_024592.5
p.G38C
c.112G>T
1 paper
NM_024592.5
p.A24T
c.70G>A
1 paper
NM_024592.5
p.L22delFs
c.66delG
2 papers
NM_024592.5
p.L20P
c.59T>C
25 papers
NM_024592.5
p.W19*
c.57G>A
2 papers
NM_024592.5
p.W19C
c.57G>C
2 papers
NM_024592.5
p.W19C
c.57G>T
22 papers
NM_024592.5
p.W19*
c.56G>A
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