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

152 papers

NM_000348.4

p.A49T

c.145G>A

Surrounding Variants

1 paper

NM_000348.4

p.A49S

c.145G>T

3 papers

NM_000348.4

p.A49D

c.146C>A

2 papers

NM_000348.4

p.P48L

c.143C>T

7 papers

NM_000348.4

p.P48R

c.143C>G

1 paper

NM_000348.4

p.P48A

c.142C>G

2 papers

NM_000348.4

p.R50H

c.149G>A

1 paper

NM_000348.4

p.L47insFs

c.140_141ins4

7 papers

NM_000348.4

p.A51T

c.151G>A

1 paper

NM_000348.4

p.A52S

c.154G>T

1 paper

NM_000348.4

p.A52P

c.154G>C

8 papers

NM_000348.4

p.A52T

c.154G>A

5 papers

NM_000348.4

p.W53*

c.158G>A