Varaico: Literature-Extracted Genetic Variants

SRD5A1

37 papers

RefSeq Summary

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008].

Pfam Domains

Steroid_dhaa 110–259UCSC3-oxo-5-alpha-steroid 4-dehydrogenase

Gene Aliases

HGNC Name

steroid 5 alpha-reductase 1

HGNC Previous Name

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

2 papers

NM_001047.4

p.V58V

c.174G>C

1 paper

NM_001047.4

p.M1T

c.2T>C

1 paper

NM_001047.4

p.Q33*

c.97C>T

1 paper

NM_001047.4

p.R49*

c.145C>T

1 paper

NM_001047.4

p.A54V

c.161C>T

1 paper

NM_001047.4

p.A55T

c.163G>A

1 paper

NM_001047.4

p.L61P

c.182T>C

1 paper

NM_001047.4

p.S63insFs

c.188_189insTA

1 paper

NM_001047.4

p.S63L

c.188C>T

1 paper

NM_001047.4

p.S73insFs

c.217_218insC

1 paper

NM_001047.4

p.R98Splc

c.293+1619T>C

1 paper

NM_001047.4

p.R98Splc

c.293+2468G>A