SWISSVAR
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1 protein found in SwissVar (99 variants)

with gene/protein name P08F94

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)
P08F94 PKHD1_HUMAN polycystic kidney disease 4, with or without polycystic liver disease p.Ala17Val
p.Arg19His
p.Thr36Met
p.Arg92Trp
p.Glu218Lys
p.Ile222Val
p.Gly223Ser
p.Ile246Thr
p.Phe253Leu
p.Tyr255Cys
p.Ala293Val
p.Ile307Thr
p.Gly326Val
p.Phe372Leu
p.Gly466Glu
p.Gly470Val
p.Ile473Ser
p.Tyr486His
p.Arg496Pro
p.Ile539Thr
p.Trp656Cys
p.His686Pro
p.Asp703Asn
p.Pro724Arg
p.Pro739Leu
p.Ile757Leu
p.Arg760His
p.Pro805Leu
p.Thr899Pro
p.Met997Lys
p.Ala1030Glu
p.Gly1122Ser
p.Gly1123Ser
p.Cys1249Trp
p.Pro1389Thr
p.Leu1407Arg
p.Cys1472Tyr
p.Pro1486Leu
p.Ser1584Ile
p.Arg1624Trp
p.Ser1664Phe
p.Val1741Met
p.Thr1781Ile
p.Val1789Leu
p.Val1817Gly
p.Ser1833Leu
p.Tyr1838Cys
p.Ser1867Asn
p.Val1875Gly
p.Gln1917Arg
p.Trp1928Leu
p.Asp1942Gly
p.Gly1971Asp
p.Glu1995Gly
p.Ile1998Thr
p.Ala2009Thr
p.Val2032Leu
p.Leu2106Arg
p.Leu2134Pro
p.Gly2210Glu
p.Ser2219Leu
p.Gly2224Arg
p.Ile2303Phe
p.Ile2331Lys
p.Cys2422Arg
p.Cys2422Gly
p.Glu2431Val
p.Arg2573Cys
p.Cys2688Phe
p.Asp2761Tyr
p.Leu2772Pro
p.Val2798Gly
p.Cys2803Arg
p.Met2804Lys
p.Tyr2863Cys
p.Ile2957Thr
p.Asp2962Gly
p.Ser2983Leu
p.Ser3018Phe
p.Val3036Gly
p.His3049Arg
p.Ile3081Val
p.His3124Tyr
p.Ile3167Leu
p.Asn3175Ser
p.Asn3175Asp
p.Ile3177Thr
p.Ala3207Thr
p.Ser3289Ile
p.Asp3293Val
p.Cys3346Arg
p.Ile3468Val
p.Val3471Gly
p.Arg3482Cys
p.Glu3502Val
p.Ile3553Thr
p.Cys3622Tyr
p.Pro3783Ser
p.Arg3957Cys



































































































P08F94 PKHD1_HUMAN patients that lack variations in known causative genes, such as prkcsh and sec63