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.A24T

c.70G>A

Surrounding Variants

1 paper

NM_000348.4

p.A24delFs

c.72delG

1 paper

NM_000348.4

p.G21A

c.62G>C

6 papers

NM_000348.4

p.Y26*

c.78C>G

5 papers

NM_000348.4

p.Y26*

c.78C>A

1 paper

NM_000348.4

p.G21R

c.61G>C

1 paper

NM_000348.4

p.G21R

c.61G>A

1 paper

NM_000348.4

p.V27fs

c.79_80fs

1 paper

NM_000348.4

p.L20ins9

c.59_60ins27

1 paper

NM_000348.4

p.V27A

c.80T>C

25 papers

NM_000348.4

p.L20P

c.59T>C

1 paper

NM_000348.4

p.V27V

c.81C>T

1 paper

NM_000348.4

p.A28fs

c.82_83fs