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.Y242D

c.724T>G

Surrounding Variants

2 papers

NM_000348.4

p.Y242C

c.725A>G

2 papers

NM_000348.4

p.P243S

c.727C>T

1 paper

NM_000348.4

p.P243delFs

c.729delG

1 paper

NM_000348.4

p.K244fs

c.730_731fs

1 paper

NM_000348.4

p.F239_E240insT

c.715_719ins3

5 papers

NM_000348.4

p.S245Y

c.734C>A

54 papers

NM_000348.4

p.R246W

c.736C>T

1 paper

NM_000348.4

p.R246G

c.736C>G

1 paper

NM_000348.4

p.R246P

c.737G>C

90 papers

NM_000348.4

p.R246Q

c.737G>A

1 paper

NM_000348.4

p.R246R

c.738G>A

1 paper

NM_000348.4

p.K237R

c.710A>G