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

1 paper

NM_000348.4

p.N193D

c.577A>G

Surrounding Variants

1 paper

NM_000348.4

p.N193I

c.578A>T

44 papers

NM_000348.4

p.N193S

c.578A>G

5 papers

NM_000348.4

p.F194L

c.580T>C

3 papers

NM_000348.4

p.F194I

c.580T>A

2 papers

NM_000348.4

p.G191A

c.572G>C

3 papers

NM_000348.4

p.G191E

c.572G>A

5 papers

NM_000348.4

p.F194L

c.582C>G

5 papers

NM_000348.4

p.F194L

c.582C>A

3 papers

NM_000348.4

p.G191R

c.571G>C

3 papers

NM_000348.4

p.G191R

c.571G>A

3 papers

NM_000348.4

p.L185_S190delFs

c.553_568del16

2 papers

NM_000348.4

p.G196R

c.586G>C