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.G171W

c.511G>T

Surrounding Variants

4 papers

NM_000159.4

p.K170N

c.510G>C

4 papers

NM_000159.4

p.K170N

c.510G>T

2 papers

NM_000159.4

p.K170E

c.508A>G

2 papers

NM_000159.4

p.A169Splc

c.506-1G>A

1 paper

NM_000159.4

p.A169Splc

c.506-1G>T

1 paper

NM_000159.4

p.L174V

c.520C>G

2 papers

NM_000159.4

p.L174P

c.521T>C

1 paper

NM_000159.4

p.G175S

c.523G>A

7 papers

NM_000159.4

p.C176R

c.526T>C

1 paper

NM_000159.4

p.C176W

c.528C>G

2 papers

NM_000159.4

p.F177L

c.529T>C

2 papers

NM_000159.4

p.F177L

c.531C>A