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

2 papers

NM_000348.4

p.L125R

c.374T>G

Surrounding Variants

1 paper

NM_000348.4

p.Q126*

c.376C>T

5 papers

NM_000348.4

p.V124D

c.371T>A

35 papers

NM_000348.4

p.Q126R

c.377A>G

3 papers

NM_000348.4

p.N122_G123del2

c.364_368del6

2 papers

NM_000348.4

p.G127fs

c.379_380fs

3 papers

NM_000348.4

p.G123R

c.367G>C

3 papers

NM_000348.4

p.G123R

c.367G>A

2 papers

NM_000348.4

p.G127delFs

c.380delC

1 paper

NM_000348.4

p.N122delFs

c.365delT

6 papers

NM_000348.4

p.Y128C

c.383A>G

1 paper

NM_000348.4

p.N122S

c.365A>G

2 papers

NM_000348.4

p.N122fs

c.364_365fs