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.L483P

c.1448T>C

Surrounding Variants

1 paper

NM_004035.7

p.S482N

c.1445G>A

1 paper

NM_004035.7

p.E481K

c.1441G>A

1 paper

NM_004035.7

p.A492V

c.1475C>T

1 paper

NM_004035.7

p.R493Splc

c.1478+1G>A

1 paper

NM_004035.7

p.W471*

c.1412G>A

1 paper

NM_004035.7

p.Q466delFs

c.1396delG

1 paper

NM_004035.7

p.D457N

c.1369G>A

1 paper

NM_004035.7

p.N456N

c.1368C>T

1 paper

NM_004035.7

p.G445_V448del4

c.1333_1343del12

1 paper

NM_004035.7

p.V448L

c.1342G>C

1 paper

NM_004035.7

p.L447S

c.1340T>C

2 papers

NM_004035.7

p.K446R

c.1337A>G