SWISSVAR
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1 protein found in SwissVar (20 variants)

with gene/protein name Q9Y6X0

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)
Q9Y6X0 SETBP_HUMAN schinzel-giedion midface retraction syndrome p.Asp868Asn
p.Asp868Ala
p.Gly870Asp
p.Gly870Ser
p.Ile871Thr





Q9Y6X0 SETBP_HUMAN myeloid malignancies p.Asp868Tyr
p.Asp868Gly
p.Ser869Asn
p.Ser869Arg
p.Gly870Val
p.Thr873Arg
p.Asp874Asn
p.Asp880Glu
p.Asp880Ala
p.Asp880Asn
p.Asp908Asn











Q9Y6X0 SETBP_HUMAN myelodysplastic syndrome p.Asp868Asn
p.Ser869Asn
p.Gly870Ser
p.Thr873Arg




Q9Y6X0 SETBP_HUMAN mental retardation, autosomal dominant 29
Q9Y6X0 SETBP_HUMAN leukemia, acute myelogenous p.Ser854Ala
p.Gly870Arg
p.Gly870Ser
p.Ile871Ser




Q9Y6X0 SETBP_HUMAN leukemia, chronic myeloid, atypical p.Glu858Lys
p.Asp868Asn
p.Gly870Ser
p.Ile871Thr




Q9Y6X0 SETBP_HUMAN leukemia, juvenile myelomonocytic p.Asp868Asn