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.C82Y

c.245G>A

Surrounding Variants

1 paper

NM_003501.3

p.R81*

c.241C>T

1 paper

NM_003501.3

p.F79V

c.235T>G

1 paper

NM_003501.3

p.E94K

c.280G>A

1 paper

NM_003501.3

p.P104L

c.311C>T

1 paper

NM_003501.3

p.R46C

c.136C>T

1 paper

NM_003501.3

p.M44T

c.131T>C

1 paper

NM_003501.3

p.G43D

c.128G>A

1 paper

NM_003501.3

p.T39M

c.116C>T

1 paper

NM_003501.3

p.L21delFs

c.61delG

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.P20L

c.59C>T