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.Y188delFs

c.562_563delTA

Surrounding Variants

3 papers

NM_000348.4

p.V189A

c.566T>C

3 papers

NM_000348.4

p.Y188_V189insTA

c.562_566ins6

1 paper

NM_000348.4

p.Y188fs

c.562_563fs

3 papers

NM_000348.4

p.L185_S190delFs

c.553_568del16

10 papers

NM_000348.4

p.T187M

c.560C>T

1 paper

NM_000348.4

p.T187K

c.560C>A

3 papers

NM_000348.4

p.G191R

c.571G>C

3 papers

NM_000348.4

p.G191R

c.571G>A

1 paper

NM_000348.4

p.L185_T187Fs

c.554_559delinsTGTGFs

2 papers

NM_000348.4

p.G191A

c.572G>C

3 papers

NM_000348.4

p.G191E

c.572G>A

1 paper

NM_000348.4

p.L185S

c.554T>C