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.N373K

c.1119T>A

Surrounding Variants

3 papers

NM_000159.4

p.N373K

c.1119T>G

3 papers

NM_000159.4

p.N373S

c.1118A>G

5 papers

NM_000159.4

p.R372K

c.1115G>A

4 papers

NM_000159.4

p.C375R

c.1123T>C

1 paper

NM_000159.4

p.C375W

c.1125T>G

1 paper

NM_000159.4

p.G376E

c.1127G>A

2 papers

NM_000159.4

p.L370P

c.1109T>C

2 papers

NM_000159.4

p.K377R

c.1130A>G

1 paper

NM_000159.4

p.K377N

c.1131A>C

2 papers

NM_000159.4

p.L370delFs

c.1108delC

1 paper

NM_000159.4

p.A378T

c.1132G>A

9 papers

NM_000159.4

p.A378V

c.1133C>T