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.Y413*

c.1239C>A

Surrounding Variants

1 paper

NM_000159.4

p.Y413*

c.1239C>G

3 papers

NM_000159.4

p.Y413C

c.1238A>G

27 papers

NM_000159.4

p.E414K

c.1240G>A

3 papers

NM_000159.4

p.E414Q

c.1240G>C

1 paper

NM_000159.4

p.E414*

c.1240G>T

4 papers

NM_000159.4

p.E414A

c.1241A>C

2 papers

NM_000159.4

p.Y413D

c.1237T>G

4 papers

NM_000159.4

p.T412N

c.1235C>A

1 paper

NM_000159.4

p.G415S

c.1243G>A

1 paper

NM_000159.4

p.G415Splc

c.1243+1G>C

1 paper

NM_000159.4

p.G415Splc

c.1243+1G>T

6 papers

NM_000159.4

p.V410M

c.1228G>A