Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.W107*

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
9 papers
NM_024592.5
p.W107*
c.320G>A
Surrounding Variants
9 papers
NM_024592.5
p.W107*
c.321G>A
1 paper
NM_024592.5
p.L111fs
c.331_332fs
1 paper
NM_024592.5
p.F104delFs
c.312delT
1 paper
NM_024592.5
p.L98fs
c.292_293fs
1 paper
NM_024592.5
p.L98V
c.292C>G
2 papers
NM_024592.5
p.L98fs
c.292_293fs
4 papers
NM_024592.5
p.L98delFs
c.292_293delCT
2 papers
NM_024592.5
p.Q96*
c.286C>T
1 paper
NM_024592.5
p.Q96Fs
c.286_288delinsTFs
10 papers
NM_024592.5
p.Q96Fs
c.286_288delinsTGAGTAAGGCFs
1 paper
NM_024592.5
p.F79_Y80ins4
c.235_239ins12
1 paper
NM_024592.5
p.Y75*
c.225T>A
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