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.A207P

c.619G>C

Surrounding Variants

2 papers

NM_003501.3

p.A192T

c.574G>A

1 paper

NM_003501.3

p.G222E

c.665G>A

1 paper

NM_003501.3

p.T173A

c.517A>G

1 paper

NM_003501.3

p.A169V

c.506C>T

1 paper

NM_003501.3

p.T167N

c.500C>A

1 paper

NM_003501.3

p.T159N

c.476C>A

1 paper

NM_003501.3

p.G245A

c.734G>C

1 paper

NM_003501.3

p.G245D

c.734G>A

1 paper

NM_003501.3

p.K250fs

c.748_749fs

1 paper

NM_003501.3

p.K250delFs

c.750delT

1 paper

NM_003501.3

p.G259Splc

c.776+2T>G

1 paper

NM_003501.3

p.M150L

c.448A>T