SWISSVAR
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1 protein found in SwissVar (164 variants)

with gene/protein name P13569

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)
P13569 CFTR_HUMAN cystic fibrosis p.Ser13Phe
p.Arg31Leu
p.Ser42Phe
p.Asp44Gly
p.Trp57Gly
p.Pro67Leu
p.Arg74Trp
p.Gly85Glu
p.Phe87Leu
p.Gly91Arg
p.Glu92Lys
p.Gln98Arg
p.Ile105Ser
p.Tyr109Cys
p.Asp110His
p.Arg117His
p.Arg117Pro
p.Arg117Leu
p.Arg117Cys
p.Ala120Thr
p.His139Arg
p.Ala141Asp
p.Ile148Thr
p.Gly178Arg
p.Glu193Lys
p.His199Tyr
p.His199Gln
p.Pro205Ser
p.Leu206Trp
p.Cys225Arg
p.Asn287Tyr
p.Arg297Gln
p.Tyr301Cys
p.Ser307Asn
p.Phe311Leu
p.Gly314Arg
p.Gly314Glu
p.Arg334Trp
p.Ile336Lys
p.Thr338Ile
p.Leu346Pro
p.Arg347Pro
p.Arg347His
p.Arg347Leu
p.Arg352Gln
p.Gln359Lys
p.Ala455Glu
p.Val456Phe
p.Gly458Val
p.Gly480Cys
p.Ser492Phe
p.Glu504Gln
p.Val520Phe
p.Ser549Ile
p.Ser549Asn
p.Ser549Arg
p.Gly551Ser
p.Gly551Asp
p.Arg553Gln
p.Leu558Ser
p.Ala559Thr
p.Arg560Thr
p.Arg560Lys
p.Arg560Ser
p.Ala561Glu
p.Val562Ile
p.Val562Leu
p.Tyr563Asn
p.Tyr569His
p.Tyr569Cys
p.Tyr569Asp
p.Leu571Ser
p.Asp572Asn
p.Pro574His
p.Asp579Gly
p.Ile601Phe
p.Leu610Ser
p.Ala613Thr
p.Asp614Gly
p.Ile618Thr
p.Leu619Ser
p.His620Pro
p.His620Gln
p.Gly628Arg
p.Leu633Pro
p.Asp648Val
p.Asp651Asn
p.Thr665Ser
p.Phe693Leu
p.Val754Met
p.Glu822Lys
p.Cys866Tyr
p.Tyr913Cys
p.Tyr917Cys
p.His949Tyr
p.Met952Ile
p.Leu997Phe
p.Ile1005Arg
p.Ala1006Glu
p.Pro1013Leu
p.Met1028Ile
p.Phe1052Val
p.Gly1061Arg
p.Leu1065Arg
p.Leu1065Pro
p.Arg1066His
p.Arg1066Leu
p.Arg1066Cys
p.Ala1067Thr
p.Arg1070Gln
p.Arg1070Pro
p.Gln1071Pro
p.Pro1072Leu
p.Leu1077Pro
p.His1085Arg
p.Trp1098Arg
p.Met1101Arg
p.Met1101Lys
p.Met1137Val
p.Asp1152His
p.Lys1200Glu
p.Ile1234Val
p.Ser1235Arg
p.Gly1244Glu
p.Gly1249Glu
p.Ser1251Asn
p.Ser1255Pro
p.Asp1270Asn
p.Trp1282Arg
p.Arg1283Met
p.Phe1286Ser
p.Gln1291Arg
p.Gln1291His
p.Asn1303Lys
p.Asn1303His
p.Gly1349Asp
p.Val1397Glu









































































































































P13569 CFTR_HUMAN congenital bilateral absence of the vas deferens p.Ser50Tyr
p.Arg74Trp
p.Asp110His
p.Pro111Leu
p.Arg117His
p.Gly149Arg
p.Arg170His
p.Glu193Lys
p.Leu206Trp
p.Val232Asp
p.Met244Lys
p.Arg258Gly
p.Arg334Trp
p.Asp443Tyr
p.Asp513Gly
p.Gly544Val
p.Ile556Val
p.Val562Ile
p.Gly576Ala
p.Gly622Asp
p.Arg668Cys
p.Arg766Met
p.Arg792Gly
p.Ala800Gly
p.Ile807Met
p.Val938Gly
p.Met952Ile
p.Ala959Val
p.Ser977Phe
p.Leu997Phe
p.Tyr1032Cys
p.Gly1069Arg
p.Arg1070Trp
p.Asp1152His
p.Val1153Glu
p.Asp1270Asn
p.Gln1352His
p.Ala1364Val