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.A304T

c.910G>A

Surrounding Variants

1 paper

NM_000159.4

p.A304fs

c.910_911fs

2 papers

NM_000159.4

p.A304G

c.911C>G

2 papers

NM_000159.4

p.G303E

c.908G>A

2 papers

NM_000159.4

p.G303A

c.908G>C

1 paper

NM_000159.4

p.G303delFs

c.909delA

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

2 papers

NM_000159.4

p.L302P

c.905T>C

1 paper

NM_000159.4

p.V301V

c.903G>A

1 paper

NM_000159.4

p.V301A

c.902T>C

8 papers

NM_000159.4

p.V301M

c.901G>A