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

1–12 of 103 variants

10 papers

NM_003500.4

p.R225W

c.673C>T

7 papers

NM_003500.4

p.Y69*

c.207T>A

7 papers

NM_003500.4

p.A152_Q153delFs

c.456_459del4

6 papers

NM_003500.4

p.Y69*

c.207T>G

5 papers

NM_003500.4

p.T154fs

c.460_461fs

4 papers

NM_003500.4

p.R35W

c.103C>T

4 papers

NM_003500.4

p.S461_S464del4

c.1381_1391del12

3 papers

NM_003500.4

p.T154fs

c.460_461fs

3 papers

NM_003500.4

p.C434C

c.1302T>C

3 papers

NM_003500.4

p.R574C

c.1720C>T

3 papers

NM_003500.4

p.R614C

c.1840C>T

2 papers

NM_003500.4

p.R50C

c.148C>T