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

109 papers

NM_000348.4

p.R227Q

c.680G>A

Surrounding Variants

18 papers

NM_000348.4

p.R227*

c.679C>T

1 paper

NM_000348.4

p.R227fs

c.679_680fs

1 paper

NM_000348.4

p.A228P

c.682G>C

22 papers

NM_000348.4

p.A228T

c.682G>A

4 papers

NM_000348.4

p.L226P

c.677T>C

16 papers

NM_000348.4

p.A228V

c.683C>T

1 paper

NM_000348.4

p.L226_A228delFs

c.678_684del7

1 paper

NM_000348.4

p.G225G

c.675G>A

3 papers

NM_000348.4

p.F229S

c.686T>C

1 paper

NM_000348.4

p.G225R

c.673G>A

1 paper

NM_000348.4

p.L224L

c.672T>A

6 papers

NM_000348.4

p.L224P

c.671T>C