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.E379K

c.1135G>A

Surrounding Variants

2 papers

NM_003501.3

p.D388G

c.1163A>G

2 papers

NM_003501.3

p.R389H

c.1166G>A

1 paper

NM_003501.3

p.R355H

c.1064G>A

NM_001375789.1

p.R260H

c.779G>A

1 paper

NM_003501.3

p.R355C

c.1063C>T

1 paper

NM_003501.3

p.Q393_A394Splc

c.1180-5C>G

1 paper

NM_003501.3

p.A402T

c.1204G>A

1 paper

NM_003501.3

p.A411D

c.1232C>A

1 paper

NM_003501.3

p.L347P

c.1040T>C

1 paper

NM_003501.3

p.L347I

c.1039C>A

1 paper

NM_003501.3

p.C426S

c.1277G>C

1 paper

NM_003501.3

p.R334H

c.1001G>A

1 paper

NM_003501.3

p.L317fs

c.949_950fs