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

1–12 of 71 variants

4 papers

NM_003501.3

p.Q295*

c.883C>T

2 papers

NM_003501.3

p.A192T

c.574G>A

2 papers

NM_003501.3

p.G278E

c.833G>A

2 papers

NM_003501.3

p.D388G

c.1163A>G

2 papers

NM_003501.3

p.R389H

c.1166G>A

2 papers

NM_003501.3

p.R436Q

c.1307G>A

2 papers

NM_003501.3

p.D497N

c.1489G>A

2 papers

NM_003501.3

p.R602H

c.1805G>A

1 paper

NM_003501.3

p.P20L

c.59C>T

1 paper

NM_003501.3

p.L21F

c.61C>T

1 paper

NM_003501.3

p.L21fs

c.61_62fs

1 paper

NM_003501.3

p.L21delFs

c.61delG