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.H232Fs

c.694delinsCCCATAFs

Surrounding Variants

3 papers

NM_000348.4

p.H232R

c.695A>G

4 papers

NM_000348.4

p.H232H

c.696T>C

2 papers

NM_000348.4

p.H232D

c.694C>G

1 paper

NM_000348.4

p.R233Fs

c.698delinsCCCATAFs

1 paper

NM_000348.4

p.H232_R233Fs

c.694_698delinsCCCATAFs

27 papers

NM_000348.4

p.H231R

c.692A>G

5 papers

NM_000348.4

p.R233Splc

c.698+1G>T

1 paper

NM_000348.4

p.H231Y

c.691C>T

4 papers

NM_000348.4

p.R233Splc

c.698+2T>C

11 papers

NM_000348.4

p.H230P

c.689A>C

3 papers

NM_000348.4

p.F229S

c.686T>C

1 paper

NM_000348.4

p.L226_A228delFs

c.678_684del7