SWISSVAR

1 protein found in SwissVar (74 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 p.Ser10Asn
p.Tyr16Cys
p.Gly20Glu
p.Tyr27Ser
p.His61Arg
p.His61Asp
p.Leu112Arg
p.Arg130Gly
p.Gly132Val
p.Val133Ile
p.Ser170Asn
p.Arg173Pro
p.Arg173His
p.Tyr174Asn
p.Ser227Phe
p.Gly251Cys
p.Val290Leu
p.Val369Gly
p.Thr401Ile



















P60484 PTEN_HUMAN malignant melanoma p.Asp19Asn
p.Val217Ile


P60484 PTEN_HUMAN endometrial hyperplasia p.Gly36Arg
p.Arg173Cys
p.Val191Ala
p.Thr348Ile




P60484 PTEN_HUMAN glioma p.Arg15Ser
p.Gly36Glu
p.Leu42Arg
p.Leu57Trp




P60484 PTEN_HUMAN breast cancer p.Thr167Pro

P60484 PTEN_HUMAN glioma and meningioma p.Arg234Gln

P60484 PTEN_HUMAN glioblastoma p.Ala121Pro
p.Gly129Arg
p.Gly165Arg
p.Leu345Gln




P60484 PTEN_HUMAN multiple cancers p.Val119Leu
p.Val158Leu


P60484 PTEN_HUMAN cowden syndrome 1 p.Met35Arg
p.Arg47Gly
p.Ile67Arg
p.Tyr68His
p.Leu70Pro
p.Cys71Tyr
p.His93Tyr
p.Leu112Pro
p.His123Arg
p.Cys124Ser
p.Cys124Arg
p.Gly129Glu
p.Arg130Gln
p.Arg130Leu
p.Cys136Tyr
p.Tyr155Cys
p.Gly165Glu
p.Gly165Val
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 bannayan-riley-ruvalcaba syndrome p.Ala34Asp
p.Tyr68His
p.Cys105Phe
p.Cys105Tyr
p.Asp107Tyr
p.Ile135Val
p.Ser170Arg
p.Pro246Leu








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
P60484 PTEN_HUMAN vacterl association with hydrocephalus
P60484 PTEN_HUMAN prostate cancer p.Met134Leu

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



P60484 PTEN_HUMAN chromosome 10q23 deletion syndrome