SWISSVAR
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1 protein found in SwissVar (54 variants)

with gene/protein name P21802

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)
P21802 FGFR2_HUMAN crouzon syndrome p.Tyr105Cys
p.Pro263Leu
p.Ser267Pro
p.Phe276Val
p.Cys278Tyr
p.Cys278Phe
p.Tyr281Cys
p.Ile288Ser
p.Gln289Pro
p.Trp290Gly
p.Trp290Arg
p.Lys292Glu
p.Tyr301Cys
p.Tyr328Cys
p.Asn331Ile
p.Ala337Pro
p.Gly338Glu
p.Gly338Arg
p.Tyr340His
p.Thr341Pro
p.Cys342Phe
p.Cys342Tyr
p.Cys342Arg
p.Cys342Trp
p.Cys342Ser
p.Ala344Gly
p.Ala344Pro
p.Ser347Cys
p.Ser351Cys
p.Ser354Cys
p.Ser354Tyr
p.Val359Phe
p.Ala362Ser
p.Gly384Arg
p.Asn549His
p.Arg678Gly




































P21802 FGFR2_HUMAN jackson-weiss syndrome p.Cys278Phe
p.Gln289Pro
p.Cys342Arg
p.Cys342Ser
p.Ala344Gly





P21802 FGFR2_HUMAN apert syndrome p.Ser252Phe
p.Ser252Trp
p.Pro253Arg



P21802 FGFR2_HUMAN pfeiffer syndrome p.Ala172Phe
p.Ser252Trp
p.Cys278Phe
p.Trp290Cys
p.Asp321Ala
p.Tyr340Cys
p.Thr341Pro
p.Cys342Ser
p.Cys342Gly
p.Cys342Tyr
p.Cys342Arg
p.Ala344Pro
p.Ser351Cys
p.Val359Phe
p.Tyr375Cys
p.Glu565Gly
p.Lys641Arg
p.Gly663Glu


















P21802 FGFR2_HUMAN beare-stevenson cutis gyrata syndrome p.Ser372Cys
p.Tyr375Cys


P21802 FGFR2_HUMAN familial scaphocephaly syndrome p.Lys526Glu

P21802 FGFR2_HUMAN lacrimo-auriculo-dento-digital syndrome p.Ala628Thr
p.Ala648Thr


P21802 FGFR2_HUMAN antley-bixler syndrome, without genital anomalies or disordered steroidogenesis p.Cys342Ser
p.Cys342Arg
p.Ser351Cys



P21802 FGFR2_HUMAN bent bone dysplasia syndrome p.Tyr381Asp
p.Met391Arg


P21802 FGFR2_HUMAN saethre-chotzen syndrome