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

42 papers

NM_000348.4

p.P212R

c.635C>G

Surrounding Variants

1 paper

NM_000348.4

p.P212L

c.635C>T

1 paper

NM_000348.4

p.L211L

c.633C>A

6 papers

NM_000348.4

p.S210F

c.629C>T

1 paper

NM_000348.4

p.S210Y

c.629C>A

1 paper

NM_000348.4

p.L214delFs

c.642delA

1 paper

NM_000348.4

p.W209*

c.626G>A

5 papers

NM_000348.4

p.A215V

c.644C>T

3 papers

NM_000348.4

p.T208I

c.623C>T

2 papers

NM_000348.4

p.T208P

c.622A>C

7 papers

NM_000348.4

p.A217_F218insC

c.649_653ins3

23 papers

NM_000348.4

p.A207D

c.620C>A

5 papers

NM_000348.4

p.A217E

c.650C>A