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

3 papers

NM_003500.4

p.R574C

c.1720C>T

Surrounding Variants

1 paper

NM_003500.4

p.R574H

c.1721G>A

1 paper

NM_003500.4

p.L575L

c.1725C>T

1 paper

NM_003500.4

p.I568T

c.1703T>C

1 paper

NM_003500.4

p.E565Q

c.1693G>C

1 paper

NM_003500.4

p.S588L

c.1763C>T

3 papers

NM_003500.4

p.R614C

c.1840C>T

1 paper

NM_003500.4

p.R614R

c.1842C>T

1 paper

NM_003500.4

p.T536S

c.1607C>G

1 paper

NM_003500.4

p.T536S

c.1606A>T

2 papers

NM_003500.4

p.Q528E

c.1582C>G

1 paper

NM_003500.4

p.I511M

c.1533A>G

1 paper

NM_003500.4

p.A475V

c.1424C>T