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.L253R

c.758T>G

Surrounding Variants

1 paper

NM_004035.7

p.L253Q

c.758T>A

1 paper

NM_004035.7

p.Q258*

c.772C>T

1 paper

NM_004035.7

p.K241R

c.722A>G

1 paper

NM_004035.7

p.L240L

c.720C>T

1 paper

NM_004035.7

p.Y239*

c.717C>G

1 paper

NM_004035.7

p.Y239*

c.717C>A

15 papers

NM_004035.7

p.N237S

c.710A>G

1 paper

NM_004035.7

p.D233Y

c.697G>T

2 papers

NM_004035.7

p.G231V

c.692G>T

1 paper

NM_004035.7

p.G231C

c.691G>T

2 papers

NM_001185039.2

p.G189S

c.565G>A

NM_004035.7

p.G227S

c.679G>A

1 paper

NM_004035.7

p.V223I

c.667G>A