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.G346D

c.1037G>A

Surrounding Variants

1 paper

NM_000159.4

p.G346fs

c.1036_1037fs

1 paper

NM_000159.4

p.L347F

c.1039C>T

2 papers

NM_000159.4

p.L345P

c.1034T>C

1 paper

NM_000159.4

p.L345delFs

c.1035delG

1 paper

NM_000159.4

p.L345V

c.1033C>G

3 papers

NM_000159.4

p.T344I

c.1031C>T

2 papers

NM_000159.4

p.H348Q

c.1044C>A

2 papers

NM_000159.4

p.H348Q

c.1044C>G

12 papers

NM_000159.4

p.A349T

c.1045G>A

1 paper

NM_000159.4

p.T344_L347del4

c.1030_1040del12

4 papers

NM_000159.4

p.C350R

c.1048T>C

2 papers

NM_000159.4

p.E342K

c.1024G>A