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

2 papers

NM_000159.4

p.K210N

c.630G>C

Surrounding Variants

2 papers

NM_000159.4

p.K210N

c.630G>T

2 papers

NM_000159.4

p.T211A

c.631A>G

1 paper

NM_000159.4

p.K210R

c.629A>G

1 paper

NM_000159.4

p.K210E

c.628A>G

1 paper

NM_000159.4

p.T211I

c.632C>T

2 papers

NM_000159.4

p.W212*

c.635G>A

3 papers

NM_000159.4

p.W212Splc

c.635+1G>A

1 paper

NM_000159.4

p.N207delFs

c.620delA

1 paper

NM_000159.4

p.L206F

c.616C>T

1 paper

NM_000159.4

p.Y204C

c.611A>G

1 paper

NM_000159.4

p.Y197fs

c.589_590fs

1 paper

NM_000159.4

p.H196_Y197Fs

c.588_589delinsTCCAFs