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

1–12 of 478 variants

152 papers

NM_000348.4

p.A49T

c.145G>A

109 papers

NM_000348.4

p.R227Q

c.680G>A

90 papers

NM_000348.4

p.R246Q

c.737G>A

62 papers

NM_000348.4

p.Q6*

c.16C>T

60 papers

NM_000348.4

p.G34R

c.100G>C

60 papers

NM_000348.4

p.G34R

c.100G>A

58 papers

NM_000348.4

p.G203S

c.607G>A

54 papers

NM_000348.4

p.G196S

c.586G>A

54 papers

NM_000348.4

p.R246W

c.736C>T

44 papers

NM_000348.4

p.N193S

c.578A>G

42 papers

NM_000348.4

p.P212R

c.635C>G

35 papers

NM_000348.4

p.Q126R

c.377A>G