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.L83I

c.247C>A

Surrounding Variants

1 paper

NM_000348.4

p.V82del1

c.244_245delTAC

1 paper

NM_000348.4

p.L83P

c.248T>C

1 paper

NM_000348.4

p.L84L

c.250C>T

1 paper

NM_000348.4

p.L84M

c.250C>A

1 paper

NM_000348.4

p.V82fs

c.244_245fs

1 paper

NM_000348.4

p.L84Q

c.251T>A

1 paper

NM_000348.4

p.T81T

c.243G>T

1 paper

NM_000348.4

p.T81M

c.242C>T

1 paper

NM_000348.4

p.T81fs

c.241_242fs

1 paper

NM_000348.4

p.L75_G80insFs

c.224_240dup17

1 paper

NM_000348.4

p.G80_T81insFs

c.240_241insT

10 papers

NM_000348.4

p.G85D

c.254G>A