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

2 papers

NM_000159.4

p.V133M

c.397G>A

Surrounding Variants

2 papers

NM_000159.4

p.V133L

c.397G>C

3 papers

NM_000159.4

p.V133L

c.397G>T

19 papers

NM_000159.4

p.R132Q

c.395G>A

1 paper

NM_000159.4

p.R132L

c.395G>T

5 papers

NM_000159.4

p.R132G

c.394C>G

1 paper

NM_000159.4

p.R132W

c.394C>T

3 papers

NM_000159.4

p.D134G

c.401A>G

2 papers

NM_000159.4

p.E131V

c.392A>T

4 papers

NM_000159.4

p.L130L

c.390G>A

3 papers

NM_000159.4

p.L130P

c.389T>C

11 papers

NM_000159.4

p.G136C

c.406G>T

1 paper

NM_000159.4

p.E129_L130delFs

c.387_388delGC