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.T180A

c.538A>G

Surrounding Variants

1 paper

NM_000159.4

p.T180I

c.539C>T

2 papers

NM_000159.4

p.L179P

c.536T>C

5 papers

NM_000159.4

p.L179R

c.536T>G

2 papers

NM_000159.4

p.L179V

c.535C>G

5 papers

NM_000159.4

p.E181K

c.541G>A

8 papers

NM_000159.4

p.E181Q

c.541G>C

1 paper

NM_000159.4

p.E181G

c.542A>G

20 papers

NM_000159.4

p.G178E

c.533G>A

1 paper

NM_000159.4

p.G178A

c.533G>C

29 papers

NM_000159.4

p.G178R

c.532G>A

24 papers

NM_000159.4

p.G178R

c.532G>C

2 papers

NM_000159.4

p.F177L

c.531C>A