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

2 papers

NM_000348.4

p.G77insFs

c.229_230insA

Surrounding Variants

1 paper

NM_000348.4

p.G77E

c.230G>A

2 papers

NM_000348.4

p.G77fs

c.229_230fs

1 paper

NM_000348.4

p.P78_P79insC

c.232_236ins3

3 papers

NM_000348.4

p.P79L

c.236C>T

1 paper

NM_000348.4

p.G80R

c.238G>A

1 paper

NM_000348.4

p.G80insFs

c.239_240insT

1 paper

NM_000348.4

p.G80E

c.239G>A

1 paper

NM_000348.4

p.L73fs

c.217_218fs

2 papers

NM_000348.4

p.L73delFs

c.218delA

7 papers

NM_000348.4

p.L73insFs

c.217_218insC

1 paper

NM_000348.4

p.L73P

c.218T>C

2 papers

NM_000348.4

p.L73H

c.218T>A