Varaico: Literature-Extracted Genetic Variants

ACOX1

171 papers

RefSeq Summary

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to mol...

Pfam Domains

Acyl-CoA_ox_Naa 15–133UCSCAcyl-coenzyme A oxidase N-terminal

Acyl-CoA_dh_Maa 135–245UCSCAcyl-CoA dehydrogenase, middle domain

ACOX_C_alpha1aa 275–436UCSCAcyl-CoA oxidase, C-alpha1 domain

ACOXaa 479–658UCSCAcyl-CoA oxidase

Gene Aliases

HGNC Name

acyl-CoA oxidase 1

HGNC Alias Symbol

PALMCOX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004035.7

p.R509insFs

c.1526_1527insA

Surrounding Variants

1 paper

NM_004035.7

p.R509G

c.1525A>G

1 paper

NM_004035.7

p.V514A

c.1541T>C

1 paper

NM_004035.7

p.L502F

c.1504C>T

1 paper

NM_004035.7

p.N501insFs

c.1502dupA

1 paper

NM_004035.7

p.A499insFs

c.1496_1497insAA

1 paper

NM_004035.7

p.V521F

c.1561G>T

1 paper

NM_004035.7

p.E496K

c.1486G>A

1 paper

NM_004035.7

p.R525*

c.1573C>T

1 paper

NM_004035.7

p.R525L

c.1574G>T

1 paper

NM_004035.7

p.S527N

c.1580G>A

1 paper

NM_004035.7

p.R493Splc

c.1478+1G>A

1 paper

NM_004035.7

p.A492V

c.1475C>T