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.A154T

c.460G>A

Surrounding Variants

9 papers

NM_000159.4

p.Y155H

c.463T>C

3 papers

NM_000159.4

p.Y155C

c.464A>G

4 papers

NM_000159.4

p.I152M

c.456C>G

2 papers

NM_000159.4

p.G156D

c.467G>A

1 paper

NM_000159.4

p.G156A

c.467G>C

2 papers

NM_000159.4

p.G156V

c.467G>T

1 paper

NM_000159.4

p.P151H

c.452C>A

1 paper

NM_000159.4

p.P151R

c.452C>G

3 papers

NM_000159.4

p.P151L

c.452C>T

2 papers

NM_000159.4

p.S157_E158del1

c.471_473delCGA

1 paper

NM_000159.4

p.E158G

c.473A>G

1 paper

NM_000159.4

p.M149I

c.447G>A