Varaico: Literature-Extracted Genetic Variants

GCDH

463 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysi...

Pfam Domains

Acyl-CoA_dh_Naa 61–172UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 176–269UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 287–429UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glutaryl-CoA dehydrogenase

HGNC Alias Symbols

ACAD5; GCD

Papers

RefSeq ID

Protein change

DNA change

1–12 of 656 variants

125 papers

NM_000159.4

p.R402W

c.1204C>T

77 papers

NM_000159.4

p.A421V

c.1262C>T

59 papers

NM_000159.4

p.R227P

c.680G>C

48 papers

NM_000159.4

p.A293T

c.877G>A

48 papers

NM_000159.4

p.V400M

c.1198G>A

38 papers

NM_000159.4

p.E365K

c.1093G>A

32 papers

NM_000159.4

p.G415Splc

c.1244-2A>C

31 papers

NM_000159.4

p.R161Q

c.482G>A

29 papers

NM_000159.4

p.G178R

c.532G>A

29 papers

NM_000159.4

p.R355H

c.1064G>A

28 papers

NM_000159.4

p.R128Q

c.383G>A

27 papers

NM_000159.4

p.R257W

c.769C>T