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

3 papers

NM_000159.4

p.G262S

c.784G>A

Surrounding Variants

1 paper

NM_000159.4

p.I265_M266insFs

c.795_796ins11

14 papers

NM_000159.4

p.M263V

c.787A>G

1 paper

NM_000159.4

p.T261delFs

c.782delC

4 papers

NM_000159.4

p.S259L

c.776C>T

8 papers

NM_000159.4

p.S259P

c.775T>C

1 paper

NM_000159.4

p.I265M

c.795C>G

1 paper

NM_000159.4

p.A258_S259delFs

c.774_775delCT

3 papers

NM_000159.4

p.M266V

c.796A>G

2 papers

NM_000159.4

p.M266fs

c.796_797fs

4 papers

NM_000159.4

p.M266T

c.797T>C

18 papers

NM_000159.4

p.R257Q

c.770G>A

2 papers

NM_000159.4

p.M266I

c.798G>A