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.Y129D

c.385T>G

Surrounding Variants

1 paper

NM_000348.4

p.Y128*

c.384C>G

1 paper

NM_000348.4

p.Y128*

c.384C>A

1 paper

NM_000348.4

p.Y128delins

c.383_384delinsGA

1 paper

NM_000348.4

p.Y129C

c.386A>G

6 papers

NM_000348.4

p.Y128C

c.383A>G

1 paper

NM_000348.4

p.L130M

c.388C>A

1 paper

NM_000348.4

p.L130P

c.389T>C

2 papers

NM_000348.4

p.G127delFs

c.380delC

2 papers

NM_000348.4

p.G127fs

c.379_380fs

35 papers

NM_000348.4

p.Q126R

c.377A>G

1 paper

NM_000348.4

p.Q126*

c.376C>T

2 papers

NM_000348.4

p.L125R

c.374T>G