SWISSVAR
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1 protein found in SwissVar (52 variants)

with gene/protein name P17302

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)
P17302 CXA1_HUMAN oculodentodigital dysplasia p.Gly2Val
p.Leu7Val
p.Leu11Pro
p.Leu11Ile
p.Tyr17Ser
p.Ser18Pro
p.Gly21Arg
p.Gly22Glu
p.Lys23Thr
p.Ser27Pro
p.Ile31Met
p.Ala40Val
p.Asp47His
p.Gln49Pro
p.Gln49Lys
p.Pro59His
p.Ser69Tyr
p.Arg76Ser
p.Ser86Tyr
p.Leu90Val
p.His95Arg
p.Val96Met
p.Val96Ala
p.Val96Glu
p.Tyr98Cys
p.Lys102Asn
p.Leu106Arg
p.Leu106Pro
p.Glu110Asp
p.Leu113Pro
p.Ile130Thr
p.Lys134Asn
p.Lys134Glu
p.Gly138Arg
p.Met147Thr
p.Arg148Gln
p.Thr154Asn
p.Thr154Ala
p.His194Pro
p.Ser201Phe
p.Arg202His
p.Lys206Arg
p.Val216Leu
p.Ser220Tyr












































P17302 CXA1_HUMAN oculodentodigital dysplasia, autosomal recessive
P17302 CXA1_HUMAN syndactyly 3 p.Gly143Ser

P17302 CXA1_HUMAN hypoplastic left heart syndrome 1 p.Arg362Gln
p.Arg376Gln


P17302 CXA1_HUMAN hallermann-streiff syndrome p.Arg76His

P17302 CXA1_HUMAN atrioventricular septal defect 3 p.Arg362Gln
p.Arg376Gln


P17302 CXA1_HUMAN craniometaphyseal dysplasia, autosomal recessive p.Arg239Gln

P17302 CXA1_HUMAN erythrokeratodermia variabilis et progressiva 3 p.Ala44Val
p.Glu227Asp


P17302 CXA1_HUMAN palmoplantar keratoderma and congenital alopecia 1 p.Gly8Val