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.L424P

c.1271T>C

Surrounding Variants

2 papers

NM_000159.4

p.G425V

c.1274G>T

1 paper

NM_000159.4

p.I423T

c.1268T>C

2 papers

NM_000159.4

p.G425G

c.1275G>A

77 papers

NM_000159.4

p.A421V

c.1262C>T

1 paper

NM_000159.4

p.L422_I428del7

c.1264_1283del21

21 papers

NM_000159.4

p.A421T

c.1261G>A

2 papers

NM_000159.4

p.A421P

c.1261G>C

1 paper

NM_000159.4

p.I428V

c.1282A>G

2 papers

NM_000159.4

p.I428M

c.1284C>G

1 paper

NM_000159.4

p.H420_R426delFs

c.1258_1276del19

1 paper

NM_000159.4

p.H420_T429del10

c.1258_1286del30

17 papers

NM_000159.4

p.T429M

c.1286C>T