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

12 papers

NM_000159.4

p.R128*

c.382C>T

Surrounding Variants

2 papers

NM_000159.4

p.R128G

c.382C>G

28 papers

NM_000159.4

p.R128Q

c.383G>A

1 paper

NM_000159.4

p.R128P

c.383G>C

1 paper

NM_000159.4

p.A127V

c.380C>T

1 paper

NM_000159.4

p.E129fs

c.385_386fs

1 paper

NM_000159.4

p.E129_L130delFs

c.387_388delGC

3 papers

NM_000159.4

p.L130P

c.389T>C

4 papers

NM_000159.4

p.L130L

c.390G>A

1 paper

NM_000159.4

p.L125F

c.373C>T

2 papers

NM_000159.4

p.E131V

c.392A>T

6 papers

NM_000159.4

p.G124E

c.371G>A

5 papers

NM_000159.4

p.R132G

c.394C>G