Varaico: Literature-Extracted Genetic Variants

SRD5A2

524 papers

RefSeq Summary

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhi...

Pfam Domains

Steroid_dhaa 105–254UCSC3-oxo-5-alpha-steroid 4-dehydrogenase

Gene Aliases

HGNC Name

steroid 5 alpha-reductase 2

HGNC Previous Name

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

54 papers

NM_000348.4

p.G196S

c.586G>A

Surrounding Variants

2 papers

NM_000348.4

p.G196R

c.586G>C

3 papers

NM_000348.4

p.G196V

c.587G>T

2 papers

NM_000348.4

p.G196A

c.587G>C

2 papers

NM_000348.4

p.G196D

c.587G>A

7 papers

NM_000348.4

p.E197K

c.589G>A

5 papers

NM_000348.4

p.F194L

c.582C>G

5 papers

NM_000348.4

p.F194L

c.582C>A

1 paper

NM_000348.4

p.E197G

c.590A>G

12 papers

NM_000348.4

p.E197D

c.591G>T

12 papers

NM_000348.4

p.E197D

c.591G>C

2 papers

NM_000348.4

p.E197E

c.591G>A

5 papers

NM_000348.4

p.F194L

c.580T>C