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.A12ins1

c.35_36insGCC

Surrounding Variants

3 papers

NM_000348.4

p.A12delFs

c.34delC

3 papers

NM_000348.4

p.A12T

c.34G>A

1 paper

NM_000348.4

p.A12delFs

c.35delG

1 paper

NM_000348.4

p.A12fs

c.34_35fs

1 paper

NM_000348.4

p.G13R

c.37G>C

2 papers

NM_000348.4

p.G13A

c.38G>C

1 paper

NM_000348.4

p.G13Fs

c.38delinsCCAGCFs

2 papers

NM_000348.4

p.G13D

c.38G>A

7 papers

NM_000348.4

p.S14R

c.40A>C

3 papers

NM_000348.4

p.V10G

c.29T>G

1 paper

NM_000348.4

p.V10A

c.29T>C

7 papers

NM_000348.4

p.S14R

c.42C>G