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

62 papers

NM_000348.4

p.Q6*

c.16C>T

Surrounding Variants

1 paper

NM_000348.4

p.C5S

c.14G>C

3 papers

NM_000348.4

p.C5G

c.13T>G

4 papers

NM_000348.4

p.C5R

c.13T>C

1 paper

NM_000348.4

p.C5S

c.13T>A

1 paper

NM_000348.4

p.Q4delFs

c.12delC

5 papers

NM_000348.4

p.V3I

c.7G>A

3 papers

NM_000348.4

p.V10G

c.29T>G

1 paper

NM_000348.4

p.V10A

c.29T>C

2 papers

NM_000348.4

p.M1I

c.3G>T

2 papers

NM_000348.4

p.M1I

c.3G>C

3 papers

NM_000348.4

p.M1I

c.3G>A

1 paper

NM_000348.4

p.M1R

c.2T>G