Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.F318Y

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.F318Y
c.953T>A
Surrounding Variants
1 paper
NM_024592.5
p.F318S
c.953T>C
1 paper
NM_024592.5
p.F318fs
c.952_953fs
2 papers
NM_024592.5
p.L317_*319delFs
c.951_955del5
1 paper
NM_024592.5
p.P315S
c.943C>T
1 paper
NM_024592.5
p.H309D
c.925C>G
5 papers
NM_024592.5
p.P307R
c.920C>G
1 paper
NM_024592.5
p.F293I
c.877T>A
4 papers
NM_024592.5
p.A292_F293del2
c.874_878del6
1 paper
NM_024592.5
p.L290P
c.869T>C
1 paper
NM_024592.5
p.N287S
c.860A>G
1 paper
NM_024592.5
p.V281A
c.842T>C
1 paper
NM_024592.5
p.W277*
c.830G>A
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