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.A404P

c.1210G>C

Surrounding Variants

2 papers

NM_000159.4

p.A404T

c.1210G>A

1 paper

NM_000159.4

p.A404fs

c.1210_1211fs

2 papers

NM_000159.4

p.A404insFs

c.1210_1211insG

3 papers

NM_000159.4

p.H403R

c.1208A>G

1 paper

NM_000159.4

p.M405insFs

c.1213dupA

25 papers

NM_000159.4

p.M405V

c.1213A>G

2 papers

NM_000159.4

p.M405fs

c.1213_1214fs

10 papers

NM_000159.4

p.H403Y

c.1207C>T

16 papers

NM_000159.4

p.R402Q

c.1205G>A

2 papers

NM_000159.4

p.R402P

c.1205G>C

3 papers

NM_000159.4

p.R402G

c.1204C>G

125 papers

NM_000159.4

p.R402W

c.1204C>T