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

29 papers

NM_000159.4

p.R355H

c.1064G>A

Surrounding Variants

1 paper

NM_000159.4

p.R355S

c.1063C>A

16 papers

NM_000159.4

p.R355C

c.1063C>T

3 papers

NM_000159.4

p.G354A

c.1061G>C

2 papers

NM_000159.4

p.L356S

c.1067T>C

19 papers

NM_000159.4

p.G354S

c.1060G>A

3 papers

NM_000159.4

p.G354R

c.1060G>C

5 papers

NM_000159.4

p.G354C

c.1060G>T

2 papers

NM_000159.4

p.Q352R

c.1055A>G

3 papers

NM_000159.4

p.Q352*

c.1054C>T

4 papers

NM_000159.4

p.C350R

c.1048T>C

3 papers

NM_000159.4

p.K361E

c.1081A>G

12 papers

NM_000159.4

p.A349T

c.1045G>A