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

1 paper

NM_000159.4

p.V400A

c.1199T>C

Surrounding Variants

48 papers

NM_000159.4

p.V400M

c.1198G>A

1 paper

NM_000159.4

p.H399N

c.1195C>A

2 papers

NM_000159.4

p.I401I

c.1203C>T

3 papers

NM_000159.4

p.R402G

c.1204C>G

125 papers

NM_000159.4

p.R402W

c.1204C>T

4 papers

NM_000159.4

p.Y398C

c.1193A>G

16 papers

NM_000159.4

p.R402Q

c.1205G>A

2 papers

NM_000159.4

p.R402P

c.1205G>C

10 papers

NM_000159.4

p.H403Y

c.1207C>T

3 papers

NM_000159.4

p.H403R

c.1208A>G

2 papers

NM_000159.4

p.A404insFs

c.1210_1211insG

7 papers

NM_000159.4

p.E397K

c.1189G>A