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

7 papers

NM_000159.4

p.E397K

c.1189G>A

Surrounding Variants

2 papers

NM_000159.4

p.E397*

c.1189G>T

1 paper

NM_000159.4

p.D396H

c.1186G>C

4 papers

NM_000159.4

p.Y398C

c.1193A>G

1 paper

NM_000159.4

p.H399N

c.1195C>A

48 papers

NM_000159.4

p.V400M

c.1198G>A

1 paper

NM_000159.4

p.V400A

c.1199T>C

2 papers

NM_000159.4

p.G393E

c.1178G>A

2 papers

NM_000159.4

p.N392S

c.1175A>G

2 papers

NM_000159.4

p.I401I

c.1203C>T

1 paper

NM_000159.4

p.N392fs

c.1174_1175fs

6 papers

NM_000159.4

p.N392D

c.1174A>G

9 papers

NM_000159.4

p.N392fs

c.1174_1175fs