Varaico: Literature-Extracted Genetic Variants

Gene:ACOX2
Variant:p.S363fs

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
1 paper
NM_003500.4
p.S363fs
c.1087_1088fs
Surrounding Variants
1 paper
NM_003500.4
p.S363C
c.1087A>T
1 paper
NM_003500.4
p.S363_L365delFs
c.1087_1094del8
1 paper
NM_003500.4
p.A352D
c.1055C>A
1 paper
NM_003500.4
p.Q350K
c.1048C>A
1 paper
NM_003500.4
p.L347_F348delFs
c.1041_1042delAG
1 paper
NM_003500.4
p.F348fs
c.1042_1043fs
1 paper
NM_003500.4
p.S331Splc
c.992+13C>T
1 paper
NM_003500.4
p.R323H
c.968G>A
1 paper
NM_003500.4
p.R318P
c.953G>C
1 paper
NM_003500.4
p.A316T
c.946G>A
1 paper
NM_003500.4
p.A312D
c.935C>A
1 paper
NM_003500.4
p.S302A
c.904T>G
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