Varaico: Literature-Extracted Genetic Variants

ACOX2

89 papers

RefSeq Summary

The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermed...

Pfam Domains

Acyl-CoA_ox_Naa 32–148UCSCAcyl-coenzyme A oxidase N-terminal

ACOX_C_alpha1aa 290–452UCSCAcyl-CoA oxidase, C-alpha1 domain

ACOXaa 495–675UCSCAcyl-CoA oxidase

Gene Aliases

HGNC Name

acyl-CoA oxidase 2

HGNC Alias Symbols

BRCACOX; BRCOX; THCCox

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003500.4

p.R50C

c.148C>T

Surrounding Variants

1 paper

NM_003500.4

p.K52delFs

c.154_155delTT

1 paper

NM_003500.4

p.V53_E54del1

c.158_160delCAA

1 paper

NM_003500.4

p.G43R

c.127G>C

1 paper

NM_003500.4

p.G43S

c.127G>A

4 papers

NM_003500.4

p.R35W

c.103C>T

1 paper

NM_003500.4

p.E25K

c.73G>A

1 paper

NM_003500.4

p.S24N

c.71G>A

1 paper

NM_003500.4

p.E23Q

c.67G>C

1 paper

NM_003500.4

p.D21N

c.61G>A

1 paper

NM_003500.4

p.L10L

c.30G>A

1 paper

NM_003500.4

p.H6P

c.17A>C

1 paper

NM_003500.4

p.P61P

c.183G>A