Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.E146K

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
5 papers
NM_024592.5
p.E146K
c.436G>A
Surrounding Variants
1 paper
NM_024592.5
p.R143K
c.428G>A
9 papers
NM_024592.5
p.R142*
c.424C>T
2 papers
NM_024592.5
p.S154P
c.460T>C
1 paper
NM_024592.5
p.V156_M157delFs
c.467_471del5
1 paper
NM_024592.5
p.V156fs
c.466_467fs
1 paper
NM_024592.5
p.M157del1
c.469_470delATG
2 papers
NM_024592.5
p.V134_F135Fs
c.402_404delinsTGAGTAAGGCFs
2 papers
NM_024592.5
p.V160I
c.478G>A
1 paper
NM_024592.5
p.Q162*
c.484C>T
9 papers
NM_024592.5
p.Y163*
c.489C>A
9 papers
NM_024592.5
p.Y163*
c.489C>G
1 paper
NM_024592.5
p.S128insFs
c.382dupT
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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."