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

6 papers

NM_000159.4

p.L407P

c.1220T>C

Surrounding Variants

4 papers

NM_000159.4

p.L407V

c.1219C>G

4 papers

NM_000159.4

p.N406K

c.1218C>A

4 papers

NM_000159.4

p.N406K

c.1218C>G

1 paper

NM_000159.4

p.N406T

c.1217A>C

3 papers

NM_000159.4

p.A409T

c.1225G>A

25 papers

NM_000159.4

p.M405V

c.1213A>G

2 papers

NM_000159.4

p.M405fs

c.1213_1214fs

1 paper

NM_000159.4

p.M405insFs

c.1213dupA

6 papers

NM_000159.4

p.V410M

c.1228G>A

1 paper

NM_000159.4

p.V410L

c.1228G>C

2 papers

NM_000159.4

p.V410L

c.1228G>T

2 papers

NM_000159.4

p.A404T

c.1210G>A