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

3 papers

NM_000159.4

p.W212Splc

c.636-1G>A

Surrounding Variants

1 paper

NM_000159.4

p.W212_I213insFs

c.636_637insT

1 paper

NM_000159.4

p.I213insFs

c.637_638insT

1 paper

NM_000159.4

p.I213F

c.637A>T

8 papers

NM_000159.4

p.T214A

c.640A>G

6 papers

NM_000159.4

p.T214M

c.641C>T

1 paper

NM_000159.4

p.N215fs

c.643_644fs

3 papers

NM_000159.4

p.N215insFs

c.644_645ins4

1 paper

NM_000159.4

p.N215N

c.645C>T

5 papers

NM_000159.4

p.S216L

c.647C>T

1 paper

NM_000159.4

p.P217_A219del3

c.649_656del9

1 paper

NM_000159.4

p.P217_M218insT

c.649_653ins3

3 papers

NM_000159.4

p.P217S

c.649C>T