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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACOXL

Variant:p.C469*

ACOXL

2q13 (UCSC)OMIM GTEx

83 papers

Pfam Domains

Acyl-CoA_dh_Maa 89–197UCSCAcyl-CoA dehydrogenase, middle domain

ACOX_C_alpha1aa 232–390UCSCAcyl-CoA oxidase, C-alpha1 domain

ACOXaa 431–546UCSCAcyl-CoA oxidase

Gene Aliases

HGNC Name

acyl-CoA oxidase like

HGNC Alias Symbols

FLJ11042; ACOX4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:111049255 T>A

NM_001142807.4

p.C469*

c.1407T>A

Exome: 0.1% (AC=915, hom=4)Genome: 0.1% (AC=108, hom=2)149 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."