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.Q547H

c.1641A>C

Surrounding Variants

1 paper

NM_004035.7

p.Q547H

c.1641A>T

1 paper

NM_004035.7

p.D548V

c.1643A>T

1 paper

NM_001185039.2

p.A512S

c.1534G>T

1 paper

NM_004035.7

p.E541G

c.1622A>G

1 paper

NM_004035.7

p.H532R

c.1595A>G

1 paper

NM_004035.7

p.N570S

c.1709A>G

1 paper

NM_004035.7

p.A571T

c.1711G>A

1 paper

NM_004035.7

p.A571A

c.1713G>A

1 paper

NM_004035.7

p.G572_D573insAAA

c.1714_1718ins9

1 paper

NM_004035.7

p.Q576_G577Splc

c.1728+1G>A

1 paper

NM_004035.7

p.S527N

c.1580G>A

1 paper

NM_004035.7

p.R525L

c.1574G>T