SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name P04114

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P04114 APOB_HUMAN hypobetalipoproteinemia, familial, 1 p.Arg490Trp
p.Val952Leu


P04114 APOB_HUMAN familial ligand-defective apolipoprotein b-100 p.Arg3527Gln
p.Arg3558Cys


P04114 APOB_HUMAN defects in other genes can contribute to hypocholesterolemia