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

60 papers

NM_000348.4

p.G34R

c.100G>C

Surrounding Variants

8 papers

NM_000348.4

p.G34W

c.100G>T

60 papers

NM_000348.4

p.G34R

c.100G>A

2 papers

NM_000348.4

p.G34fs

c.100_101fs

1 paper

NM_000348.4

p.Y33H

c.97T>C

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

8 papers

NM_000348.4

p.K35N

c.105G>T

1 paper

NM_000348.4

p.G32V

c.95G>T

8 papers

NM_000348.4

p.K35N

c.105G>C

1 paper

NM_000348.4

p.V27_G32delFs

c.81_94del14

2 papers

NM_000348.4

p.G32S

c.94G>A