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

2 papers

NM_000159.4

p.V148L

c.442G>C

Surrounding Variants

12 papers

NM_000159.4

p.V148I

c.442G>A

2 papers

NM_000159.4

p.V148F

c.442G>T

2 papers

NM_000159.4

p.S146Y

c.437C>A

1 paper

NM_000159.4

p.M149I

c.447G>A

1 paper

NM_000159.4

p.S146_M149del4

c.436_446del12

3 papers

NM_000159.4

p.S145Fs

c.433delinsATAFs

2 papers

NM_000159.4

p.S145fs

c.433_434fs

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

1 paper

NM_000159.4

p.S145delFs

c.433delT

3 papers

NM_000159.4

p.Q144P

c.431A>C