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.P64fs

c.190_191fs

Surrounding Variants

1 paper

NM_000348.4

p.P64S

c.190C>T

3 papers

NM_000348.4

p.V63insFs

c.188_189insTA

2 papers

NM_000348.4

p.V63_P64insFs

c.189_190insTA

11 papers

NM_000348.4

p.A65P

c.193G>C

3 papers

NM_000348.4

p.V63M

c.187G>A

1 paper

NM_000348.4

p.A65E

c.194C>A

1 paper

NM_000348.4

p.A65A

c.195G>A

9 papers

NM_000348.4

p.A62E

c.185C>A

15 papers

NM_000348.4

p.G66R

c.196G>C

15 papers

NM_000348.4

p.G66R

c.196G>A

1 paper

NM_000348.4

p.F61F

c.183C>T

1 paper

NM_000348.4

p.L68L

c.204C>T