Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.W277R

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.W277R
c.829T>C
Surrounding Variants
1 paper
NM_024592.5
p.W277R
c.829T>A
1 paper
NM_024592.5
p.W277*
c.830G>A
1 paper
NM_024592.5
p.V281A
c.842T>C
1 paper
NM_024592.5
p.V268V
c.804C>T
1 paper
NM_024592.5
p.V268D
c.803T>A
1 paper
NM_024592.5
p.N287S
c.860A>G
1 paper
NM_024592.5
p.V264G
c.791T>G
1 paper
NM_024592.5
p.L290P
c.869T>C
4 papers
NM_024592.5
p.A292_F293del2
c.874_878del6
1 paper
NM_024592.5
p.F293I
c.877T>A
1 paper
NM_024592.5
p.E259K
c.775G>A
4 papers
NM_024592.5
p.F248L
c.744T>A
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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."