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

11 papers

NM_000348.4

p.Q56R

c.167A>G

Surrounding Variants

1 paper

NM_000348.4

p.L47_L55del0

c.140_163del24

4 papers

NM_000348.4

p.Q56H

c.168G>T

5 papers

NM_000348.4

p.Q56H

c.168G>C

3 papers

NM_000348.4

p.E57*

c.169G>T

1 paper

NM_000348.4

p.E57_L58insL

c.169_173ins3

13 papers

NM_000348.4

p.E57Q

c.169G>C

6 papers

NM_000348.4

p.L55P

c.164T>C

26 papers

NM_000348.4

p.L55Q

c.164T>A

4 papers

NM_000348.4

p.E57D

c.171G>T

1 paper

NM_000348.4

p.E57_L58ins1

c.171_172insCTG

4 papers

NM_000348.4

p.E57D

c.171G>C

1 paper

NM_000348.4

p.F54F

c.162C>T