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

2 papers

NM_000348.4

p.F96L

c.286T>C

Surrounding Variants

2 papers

NM_000348.4

p.F96L

c.288T>G

2 papers

NM_000348.4

p.F96L

c.288T>A

1 paper

NM_000348.4

p.R94S

c.282G>T

1 paper

NM_000348.4

p.R94S

c.282G>C

1 paper

NM_000348.4

p.R94R

c.282G>A

1 paper

NM_000348.4

p.R94M

c.281G>T

1 paper

NM_000348.4

p.V97V

c.291G>C

2 papers

NM_000348.4

p.R94K

c.281G>A

1 paper

NM_000348.4

p.Y98N

c.292T>A

22 papers

NM_000348.4

p.R94Splc

c.282-2A>G

1 paper

NM_000348.4

p.S99L

c.296C>T

1 paper

NM_000348.4

p.L101V

c.301C>G