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

1–12 of 149 variants

15 papers

NM_004035.7

p.N237S

c.710A>G

8 papers

NM_004035.7

p.I312M

c.936C>G

4 papers

NM_004035.7

p.G144Splc

c.431-1G>A

3 papers

NM_004035.7

p.G178C

c.532G>T

3 papers

NM_004035.7

p.M278V

c.832A>G

3 papers

NM_004035.7

p.R591C

c.1771C>T

2 papers

NM_004035.7

p.Q47delFs

c.139delG

2 papers

NM_004035.7

p.Q47fs

c.139_140fs

2 papers

NM_004035.7

p.A63V

c.188C>T

2 papers

NM_004035.7

p.R210H

c.629G>A

2 papers

NM_004035.7

p.G231V

c.692G>T

2 papers

NM_004035.7

p.G263A

c.788G>C