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.P27L

c.80C>T

Surrounding Variants

1 paper

NM_004035.7

p.K29R

c.86A>G

1 paper

NM_004035.7

p.G25S

c.73G>A

1 paper

NM_004035.7

p.D24N

c.70G>A

1 paper

NM_004035.7

p.R33H

c.98G>A

1 paper

NM_004035.7

p.R6C

c.16C>T

1 paper

NM_004035.7

p.L5L

c.15G>A

2 papers

NM_004035.7

p.Q47delFs

c.139delG

2 papers

NM_004035.7

p.Q47fs

c.139_140fs

1 paper

NM_004035.7

p.H48delFs

c.142_143delTG

1 paper

NM_004035.7

p.E49K

c.145G>A

1 paper

NM_004035.7

p.L54fs

c.160_161fs

1 paper

NM_004035.7

p.L54delFs

c.160delG