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

5 papers

NM_000348.4

p.S31F

c.92C>T

Surrounding Variants

1 paper

NM_000348.4

p.S31ins4

c.91_92ins12

5 papers

NM_000348.4

p.P30insFs

c.89dupC

1 paper

NM_000348.4

p.S31Fs

c.91delinsACCTATATATATATATATATATATFs

1 paper

NM_000348.4

p.S31Fs

c.91delinsATATATATATATATATATATATATATATATATATATFs

1 paper

NM_000348.4

p.S31P

c.91T>C

4 papers

NM_000348.4

p.S31fs

c.91_92fs

2 papers

NM_000348.4

p.S31fs

c.91_92fs

2 papers

NM_000348.4

p.G32S

c.94G>A

1 paper

NM_000348.4

p.P30fs

c.88_89fs

1 paper

NM_000348.4

p.G32V

c.95G>T

1 paper

NM_000348.4

p.V27_G32delFs

c.81_94del14

8 papers

NM_000348.4

p.P30L

c.89C>T