SWISSVAR
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1 protein found in SwissVar (47 variants)

with gene/protein name Q13950

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)
Q13950 RUNX2_HUMAN cleidocranial dysplasia p.Gln53Leu
p.Leu113Arg
p.Ser118Asn
p.Ser118Arg
p.Phe121Cys
p.Cys123Arg
p.Arg131Gly
p.Arg131Cys
p.Arg131Ser
p.Leu136Pro
p.Val156Asp
p.Val156Gly
p.Arg169Gln
p.Arg169Pro
p.Met175Lys
p.Met175Arg
p.Met175Val
p.Arg186Thr
p.Phe187Ser
p.Arg190Trp
p.Arg190Gln
p.Ser191Asn
p.Arg193Gly
p.Arg193Cys
p.Arg193Gln
p.Phe197Ser
p.Leu199Phe
p.Thr200Ala
p.Thr200Ile
p.Ile201Lys
p.Thr205Arg
p.Gln209His
p.Gln209Arg
p.Ala211Pro
p.Lys218Asn
p.Lys218Glu
p.Lys218Gln
p.Thr220Ile
p.Arg225Trp
p.Arg225Gln
p.Arg225Leu
p.Arg228Gly
p.Lys233Arg
p.Asp287Asn
p.Ala362Val
p.Thr420Ile
p.Thr420Asn















































Q13950 RUNX2_HUMAN metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly