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.L17_V18insFs

c.51_52insG

Surrounding Variants

1 paper

NM_000348.4

p.V18delFs

c.52delC

1 paper

NM_000348.4

p.T16_V18delFs

c.47_54del8

2 papers

NM_000348.4

p.L17S

c.50T>C

1 paper

NM_000348.4

p.L20F

c.58C>T

25 papers

NM_000348.4

p.L20P

c.59T>C

1 paper

NM_000348.4

p.L20ins9

c.59_60ins27

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.G21A

c.62G>C

2 papers

NM_000348.4

p.A15D

c.44C>A

1 paper

NM_000348.4

p.A15T

c.43G>A

7 papers

NM_000348.4

p.S14R

c.42C>G