Varaico: Literature-Extracted Genetic Variants

ACOX1

171 papers

RefSeq Summary

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to mol...

Pfam Domains

Acyl-CoA_ox_Naa 15–133UCSCAcyl-coenzyme A oxidase N-terminal

Acyl-CoA_dh_Maa 135–245UCSCAcyl-CoA dehydrogenase, middle domain

ACOX_C_alpha1aa 275–436UCSCAcyl-CoA oxidase, C-alpha1 domain

ACOXaa 479–658UCSCAcyl-CoA oxidase

Gene Aliases

HGNC Name

acyl-CoA oxidase 1

HGNC Alias Symbol

PALMCOX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004035.7

p.M278V

c.832A>G

Surrounding Variants

1 paper

NM_004035.7

p.G276E

c.827G>A

1 paper

NM_001185039.2

p.Y237C

c.710A>G

1 paper

NM_004035.7

p.V286E

c.857T>A

1 paper

NM_004035.7

p.P268L

c.803C>T

1 paper

NM_004035.7

p.A289A

c.867T>C

1 paper

NM_004035.7

p.Y265*

c.795C>G

1 paper

NM_004035.7

p.Y265*

c.795C>A

1 paper

NM_004035.7

p.R291W

c.871C>T

1 paper

NM_004035.7

p.A292S

c.874G>T

2 papers

NM_004035.7

p.G263A

c.788G>C

1 paper

NM_004035.7

p.D262H

c.784G>C

1 paper

NM_004035.7

p.T298I

c.893C>T