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.E38insFs

c.113_114insT

Surrounding Variants

1 paper

NM_000348.4

p.H36H

c.108C>T

1 paper

NM_000348.4

p.H36R

c.107A>G

2 papers

NM_000348.4

p.L40L

c.120G>A

8 papers

NM_000348.4

p.K35N

c.105G>T

8 papers

NM_000348.4

p.K35N

c.105G>C

1 paper

NM_000348.4

p.K41fs

c.121_122fs

1 paper

NM_000348.4

p.K35fs

c.103_104fs

1 paper

NM_000348.4

p.K35_H36insGCC

c.103_107ins9

2 papers

NM_000348.4

p.G34delFs

c.101delC

2 papers

NM_000348.4

p.G34fs

c.100_101fs

1 paper

NM_000348.4

p.P42A

c.124C>G

3 papers

NM_000348.4

p.K41delFs

c.122_123delCT