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

5 papers

NM_000348.4

p.C133G

c.397T>G

Surrounding Variants

1 paper

NM_000348.4

p.C133R

c.397T>C

1 paper

NM_000348.4

p.L130P

c.389T>C

1 paper

NM_000348.4

p.Y136H

c.406T>C

1 paper

NM_000348.4

p.L130M

c.388C>A

7 papers

NM_000348.4

p.Y136*

c.408C>G

9 papers

NM_000348.4

p.Y136*

c.408C>A

1 paper

NM_000348.4

p.Y129C

c.386A>G

1 paper

NM_000348.4

p.Y129D

c.385T>G

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

6 papers

NM_000348.4

p.Y128C

c.383A>G