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

7 papers

NM_000159.4

p.S255L

c.764C>T

Surrounding Variants

1 paper

NM_000159.4

p.S255*

c.764C>A

2 papers

NM_000159.4

p.S255W

c.764C>G

3 papers

NM_000159.4

p.S255P

c.763T>C

1 paper

NM_000159.4

p.F254L

c.762C>A

1 paper

NM_000159.4

p.F254L

c.762C>G

2 papers

NM_000159.4

p.L256P

c.767T>C

1 paper

NM_000159.4

p.F254L

c.760T>C

27 papers

NM_000159.4

p.R257W

c.769C>T

18 papers

NM_000159.4

p.R257Q

c.770G>A

1 paper

NM_000159.4

p.R257P

c.770G>C

1 paper

NM_000159.4

p.G252G

c.756C>T

1 paper

NM_000159.4

p.A258_S259delFs

c.774_775delCT