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

17 papers

NM_000348.4

p.F219delFs

c.655delA

Surrounding Variants

4 papers

NM_000348.4

p.F219fs

c.655_656fs

3 papers

NM_000348.4

p.F219S

c.656T>C

2 papers

NM_000348.4

p.S220L

c.659C>T

9 papers

NM_000348.4

p.F219fs

c.655_656fs

1 paper

NM_000348.4

p.L221R

c.662T>G

3 papers

NM_000348.4

p.L221P

c.662T>C

5 papers

NM_000348.4

p.C222fs

c.664_665fs

5 papers

NM_000348.4

p.A217E

c.650C>A

2 papers

NM_000348.4

p.C222F

c.665G>T

7 papers

NM_000348.4

p.A217_F218insC

c.649_653ins3

1 paper

NM_000348.4

p.C222Y

c.665G>A

5 papers

NM_000348.4

p.L221_C222delFs

c.663_664delAA