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.I112N

c.335T>A

Surrounding Variants

4 papers

NM_000348.4

p.L111delFs

c.332_333delGA

5 papers

NM_000348.4

p.L113V

c.337C>G

1 paper

NM_000348.4

p.L113P

c.338T>C

1 paper

NM_000348.4

p.I110_L111delFs

c.330_331delGT

5 papers

NM_000348.4

p.L111fs

c.331_332fs

1 paper

NM_000348.4

p.R114*

c.340A>T

28 papers

NM_000348.4

p.G115D

c.344G>A

1 paper

NM_000348.4

p.A109D

c.326C>A

1 paper

NM_000348.4

p.Y107*

c.321T>A

3 papers

NM_000348.4

p.A117D

c.350C>A

1 paper

NM_000348.4

p.Y107H

c.319T>C

1 paper

NM_000348.4

p.P106fs

c.316_317fs