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.A293delFs

c.877delG

Surrounding Variants

1 paper

NM_000159.4

p.N292delFs

c.876delC

48 papers

NM_000159.4

p.A293T

c.877G>A

4 papers

NM_000159.4

p.A293V

c.878C>T

3 papers

NM_000159.4

p.N291K

c.873C>A

3 papers

NM_000159.4

p.N291K

c.873C>G

8 papers

NM_000159.4

p.N291delFs

c.873delC

8 papers

NM_000159.4

p.R294W

c.880C>T

7 papers

NM_000159.4

p.N291fs

c.871_872fs

11 papers

NM_000159.4

p.R294Q

c.881G>A

5 papers

NM_000159.4

p.R294P

c.881G>C

2 papers

NM_000159.4

p.R294L

c.881G>T

5 papers

NM_000159.4

p.Y295H

c.883T>C