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1 protein found in SwissVar (41 variants)

with gene/protein name P60484

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)
P60484 PTEN_HUMAN cowden syndrome 1 p.Ala34Asp
p.Met35Arg
p.Arg47Gly
p.Ile67Arg
p.Tyr68His
p.Leu70Pro
p.Cys71Tyr
p.His93Tyr
p.Cys105Phe
p.Cys105Tyr
p.Asp107Tyr
p.Leu112Pro
p.His123Arg
p.Cys124Ser
p.Cys124Arg
p.Gly129Glu
p.Arg130Gln
p.Arg130Leu
p.Ile135Val
p.Cys136Tyr
p.Tyr155Cys
p.Gly165Val
p.Gly165Glu
p.Ser170Arg
p.Pro246Leu
p.Lys289Glu
p.Asp331Gly
p.Phe341Val
p.Lys342Asn
p.Val343Glu
p.Phe347Leu































P60484 PTEN_HUMAN lhermitte-duclos disease p.Leu112Pro

P60484 PTEN_HUMAN squamous cell carcinoma of the head and neck p.Ala121Gly

P60484 PTEN_HUMAN endometrial cancer p.His123Tyr

P60484 PTEN_HUMAN proteus syndrome
P60484 PTEN_HUMAN glioma 2 p.Arg234Gln

P60484 PTEN_HUMAN prostate cancer p.Ala126Gly
p.Met134Leu


P60484 PTEN_HUMAN macrocephaly/autism syndrome p.His93Arg
p.Thr131Ile
p.Thr167Asn
p.Phe241Ser
p.Asp252Gly





P60484 PTEN_HUMAN chromosome 10q23 deletion syndrome