SWISSVAR

1 protein found in SwissVar (38 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.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 p.Arg234Gln

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