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.R227Q

c.680G>A

Surrounding Variants

59 papers

NM_000159.4

p.R227P

c.680G>C

1 paper

NM_000159.4

p.R227W

c.679C>T

6 papers

NM_000159.4

p.C228R

c.682T>C

1 paper

NM_000159.4

p.A226V

c.677C>T

3 papers

NM_000159.4

p.C228F

c.683G>T

1 paper

NM_000159.4

p.A226T

c.676G>A

5 papers

NM_000159.4

p.W225*

c.675G>A

4 papers

NM_000159.4

p.W225*

c.674G>A

2 papers

NM_000159.4

p.V224G

c.671T>G

1 paper

NM_000159.4

p.V224M

c.670G>A

2 papers

NM_000159.4

p.F222S

c.665T>C

1 paper

NM_000159.4

p.I233insFs

c.697dupA