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.G179E

c.536G>A

Surrounding Variants

1 paper

NM_004035.7

p.L180insFs

c.538_539ins38

3 papers

NM_004035.7

p.G178C

c.532G>T

1 paper

NM_004035.7

p.S172F

c.515C>T

1 paper

NM_004035.7

p.P168L

c.503C>T

1 paper

NM_004035.7

p.E162*

c.484G>T

1 paper

NM_004035.7

p.A154T

c.460G>A

1 paper

NM_004035.7

p.T153I

c.458C>T

1 paper

NM_004035.7

p.G149_L150delFs

c.445_448del4

1 paper

NM_004035.7

p.R148Q

c.443G>A

1 paper

NM_004035.7

p.G144V

c.431G>T

4 papers

NM_004035.7

p.G144Splc

c.431-1G>A

1 paper

NM_004035.7

p.L180V

c.538C>G