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

5 papers

NM_000348.4

p.L221_C222delFs

c.663_664delAA

Surrounding Variants

2 papers

NM_000348.4

p.C222F

c.665G>T

1 paper

NM_000348.4

p.C222Y

c.665G>A

5 papers

NM_000348.4

p.C222fs

c.664_665fs

1 paper

NM_000348.4

p.L221R

c.662T>G

3 papers

NM_000348.4

p.F223S

c.668T>C

3 papers

NM_000348.4

p.L221P

c.662T>C

6 papers

NM_000348.4

p.L224P

c.671T>C

4 papers

NM_000348.4

p.L224H

c.671T>A

2 papers

NM_000348.4

p.S220L

c.659C>T

1 paper

NM_000348.4

p.L224L

c.672T>A

1 paper

NM_000348.4

p.G225R

c.673G>A

4 papers

NM_000348.4

p.F219fs

c.655_656fs