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

5 papers

NM_003500.4

p.T154fs

c.460_461fs

Surrounding Variants

3 papers

NM_003500.4

p.T154fs

c.460_461fs

7 papers

NM_003500.4

p.A152_Q153delFs

c.456_459del4

1 paper

NM_003500.4

p.T154_E155del2

c.460_464del6

1 paper

NM_003500.4

p.P140L

c.419C>T

1 paper

NM_003500.4

p.W138*

c.414G>A

1 paper

NM_003500.4

p.W138*

c.413G>A

1 paper

NM_003500.4

p.Q134Q

c.402G>A

1 paper

NM_003500.4

p.Q134*

c.400C>T

1 paper

NM_003500.4

p.R124_G130del0

c.372_389del18

1 paper

NM_003500.4

p.G112*

c.334G>T

1 paper

NM_003500.4

p.A106V

c.317C>T

1 paper

NM_003500.4

p.R93C

c.277C>T