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

Selected Variant

38 papers

NM_000159.4

p.E365K

c.1093G>A

Surrounding Variants

1 paper

NM_000159.4

p.P364R

c.1091C>G

1 paper

NM_000159.4

p.P364L

c.1091C>T

1 paper

NM_000159.4

p.M366I

c.1098G>A

1 paper

NM_000159.4

p.M366I

c.1098G>C

1 paper

NM_000159.4

p.M366I

c.1098G>T

1 paper

NM_000159.4

p.V367G

c.1100T>G

3 papers

NM_000159.4

p.A362D

c.1085C>A

2 papers

NM_000159.4

p.A362fs

c.1084_1085fs

20 papers

NM_000159.4

p.K361Splc

c.1083-2A>C

1 paper

NM_000159.4

p.K361Splc

c.1083-2A>G

2 papers

NM_000159.4

p.L370delFs

c.1108delC

2 papers

NM_000159.4

p.L370P

c.1109T>C