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

3 papers

NM_000159.4

p.C308S

c.923G>C

Surrounding Variants

3 papers

NM_000159.4

p.C308S

c.922T>A

2 papers

NM_000159.4

p.C308R

c.922T>C

5 papers

NM_000159.4

p.L309W

c.926T>G

1 paper

NM_000159.4

p.F307L

c.919T>C

1 paper

NM_000159.4

p.S305*

c.914C>A

1 paper

NM_000159.4

p.S305W

c.914C>G

22 papers

NM_000159.4

p.S305L

c.914C>T

1 paper

NM_000159.4

p.T311I

c.932C>T

2 papers

NM_000159.4

p.A304G

c.911C>G

3 papers

NM_000159.4

p.A304T

c.910G>A

1 paper

NM_000159.4

p.A304fs

c.910_911fs

1 paper

NM_000159.4

p.R313G

c.937C>G