Varaico: Literature-Extracted Genetic Variants

ACOX3

72 papers

RefSeq Summary

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expres...

Pfam Domains

Acyl-CoA_dh_Maa 155–266UCSCAcyl-CoA dehydrogenase, middle domain

ACOX_C_alpha1aa 301–466UCSCAcyl-CoA oxidase, C-alpha1 domain

ACOXaa 510–693UCSCAcyl-CoA oxidase

Gene Aliases

HGNC Name

acyl-CoA oxidase 3, pristanoyl

HGNC Previous Name

acyl-Coenzyme A oxidase 3, pristanoyl

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003501.3

p.E661_L662Splc

c.1983+122G>A

Surrounding Variants

1 paper

NM_003501.3

p.E661_L662Splc

c.1983+7G>T

1 paper

NM_003501.3

p.V641E

c.1922T>A

1 paper

NM_003501.3

p.V621L

c.1861G>C

1 paper

NM_003501.3

p.E616K

c.1846G>A

1 paper

NM_003501.3

p.E685V

c.2054A>T

2 papers

NM_003501.3

p.R602H

c.1805G>A

1 paper

NM_003501.3

p.R590Q

c.1769G>A

1 paper

NM_003501.3

p.R556C

c.1666C>T