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

7 papers

NM_000348.4

p.L73insFs

c.217_218insC

Surrounding Variants

1 paper

NM_000348.4

p.L73P

c.218T>C

2 papers

NM_000348.4

p.L73H

c.218T>A

1 paper

NM_000348.4

p.P72delFs

c.216delG

1 paper

NM_000348.4

p.L73fs

c.217_218fs

2 papers

NM_000348.4

p.L73delFs

c.218delA

3 papers

NM_000348.4

p.L73fs

c.217_218fs

1 paper

NM_000348.4

p.P72S

c.214C>T

1 paper

NM_000348.4

p.Q71R

c.212A>G

14 papers

NM_000348.4

p.Q71*

c.211C>T

1 paper

NM_000348.4

p.R70R

c.210G>A

1 paper

NM_000348.4

p.R70Q

c.209G>A

2 papers

NM_000348.4

p.G77insFs

c.229_230insA