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

1 paper

NM_000159.4

p.A433T

c.1297G>A

Surrounding Variants

1 paper

NM_000159.4

p.A433P

c.1297G>C

10 papers

NM_000159.4

p.A433E

c.1298C>A

13 papers

NM_000159.4

p.A433V

c.1298C>T

1 paper

NM_000159.4

p.F434L

c.1300T>C

1 paper

NM_000159.4

p.F434L

c.1302C>A

1 paper

NM_000159.4

p.F434L

c.1302C>G

1 paper

NM_000159.4

p.T435M

c.1304C>T

1 paper

NM_000159.4

p.A436T

c.1306G>A

17 papers

NM_000159.4

p.T429M

c.1286C>T

2 papers

NM_000159.4

p.I428M

c.1284C>G

1 paper

NM_000159.4

p.I428V

c.1282A>G

3 papers

NM_000159.4

p.*439W

c.1317A>G