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

5 papers

NM_000159.4

p.G117R

c.349G>A

Surrounding Variants

5 papers

NM_000159.4

p.G117R

c.349G>C

1 paper

NM_000159.4

p.G117E

c.350G>A

1 paper

NM_000159.4

p.V118delFs

c.352delG

1 paper

NM_000159.4

p.G117G

c.351G>A

9 papers

NM_000159.4

p.C115Y

c.344G>A

1 paper

NM_000159.4

p.C115_A116delFs

c.344_347del4

17 papers

NM_000159.4

p.S119L

c.356C>T

1 paper

NM_000159.4

p.G114R

c.340G>C

2 papers

NM_000159.4

p.Y113*

c.339T>A

2 papers

NM_000159.4

p.Y113*

c.339T>G

1 paper

NM_000159.4

p.Y113C

c.338A>G

4 papers

NM_000159.4

p.Y113delFs

c.339delT