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

16 papers

NM_000159.4

p.S139W

c.416C>G

Surrounding Variants

20 papers

NM_000159.4

p.S139L

c.416C>T

1 paper

NM_000159.4

p.A140_V143delFs

c.420_429del10

2 papers

NM_000159.4

p.A140delFs

c.420delG

10 papers

NM_000159.4

p.R138K

c.413G>A

5 papers

NM_000159.4

p.R138G

c.412A>G

1 paper

NM_000159.4

p.A140A

c.420G>C

6 papers

NM_000159.4

p.M141L

c.421A>T

1 paper

NM_000159.4

p.M141_V143delFs

c.422_428del7

3 papers

NM_000159.4

p.Y137*

c.411C>A

6 papers

NM_000159.4

p.Y137*

c.411C>G

1 paper

NM_000159.4

p.S142R

c.424A>C

1 paper

NM_000159.4

p.S142T

c.425G>C