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.A388A

c.1164A>G

Surrounding Variants

1 paper

NM_003500.4

p.E406Q

c.1216G>C

2 papers

NM_003500.4

p.R409H

c.1226G>A

2 papers

NM_003500.4

p.S418S

c.1254A>G

3 papers

NM_003500.4

p.C434C

c.1302T>C

1 paper

NM_003500.4

p.N440I

c.1319A>T

2 papers

NM_003500.4

p.L456_Q459del4

c.1366_1376del12

4 papers

NM_003500.4

p.S461_S464del4

c.1381_1391del12

1 paper

NM_003500.4

p.P472insFs

c.1414_1415insTC

1 paper

NM_003500.4

p.P472fs

c.1414_1415fs

1 paper

NM_003500.4

p.A475V

c.1424C>T

1 paper

NM_003500.4

p.S363_L365delFs

c.1087_1094del8

1 paper

NM_003500.4

p.S363fs

c.1087_1088fs