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.R94G

c.280A>G

Surrounding Variants

1 paper

NM_000348.4

p.R94M

c.281G>T

3 papers

NM_000348.4

p.R94K

c.281G>A

2 papers

NM_000348.4

p.R94Splc

c.281+1G>A

1 paper

NM_000348.4

p.R94Splc

c.281+2T>A

1 paper

NM_000348.4

p.V82_R94delFs

c.244_281del38

1 paper

NM_000348.4

p.R94Splc

c.281+5C>G

3 papers

NM_000348.4

p.Y91F

c.272A>T

11 papers

NM_000348.4

p.Y91D

c.271T>G

17 papers

NM_000348.4

p.Y91H

c.271T>C

1 paper

NM_000348.4

p.H90R

c.269A>G

6 papers

NM_000348.4

p.H90P

c.269A>C

1 paper

NM_000348.4

p.H90fs

c.268_269fs