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

31 papers

NM_000159.4

p.R161Q

c.482G>A

Surrounding Variants

5 papers

NM_000159.4

p.R161W

c.481C>T

2 papers

NM_000159.4

p.Q162delFs

c.485delA

1 paper

NM_000159.4

p.Q162fs

c.484_485fs

2 papers

NM_000159.4

p.Q160R

c.479A>G

1 paper

NM_000159.4

p.Q162R

c.485A>G

2 papers

NM_000159.4

p.Q160K

c.478C>A

2 papers

NM_000159.4

p.Q160*

c.478C>T

1 paper

NM_000159.4

p.E158G

c.473A>G

1 paper

NM_000159.4

p.L165M

c.493C>A

2 papers

NM_000159.4

p.S157_E158del1

c.471_473delCGA

1 paper

NM_000159.4

p.P166delFs

c.496_497delCC

1 paper

NM_000159.4

p.P166T

c.496C>A