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

1D5RA (16)
1D5RA (20)
1D5RA (27)
1D5RA (61)
1D5RA (61)
1D5RA (112)
1D5RA (130)
1D5RA (132)
1D5RA (133)
1D5RA (170)
1D5RA (173)
1D5RA (173)
1D5RA (174)
1D5RA (227)
1D5RA (251)



P60484 PTEN_HUMAN malignant melanoma p.Asp19Asn
p.Val217Ile
1D5RA (19)
1D5RA (217)
P60484 PTEN_HUMAN endometrial hyperplasia p.Gly36Arg
p.Arg173Cys
p.Val191Ala
p.Thr348Ile
1D5RA (36)
1D5RA (173)
1D5RA (191)
1D5RA (325)
P60484 PTEN_HUMAN glioma p.Arg15Ser
p.Gly36Glu
p.Leu42Arg
p.Leu57Trp
1D5RA (15)
1D5RA (36)
1D5RA (42)
1D5RA (57)
P60484 PTEN_HUMAN breast cancer p.Thr167Pro
1D5RA (167)
P60484 PTEN_HUMAN glioma and meningioma p.Arg234Gln
1D5RA (234)
P60484 PTEN_HUMAN glioblastoma p.Ala121Pro
p.Gly129Arg
p.Gly165Arg
p.Leu345Gln
1D5RA (121)
1D5RA (129)
1D5RA (165)
1D5RA (322)
P60484 PTEN_HUMAN multiple cancers p.Val119Leu
p.Val158Leu
1D5RA (119)
1D5RA (158)
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
1D5RA (35)
1D5RA (47)
1D5RA (67)
1D5RA (68)
1D5RA (70)
1D5RA (71)
1D5RA (93)
1D5RA (112)
1D5RA (123)
1D5RA (124)
1D5RA (124)
1D5RA (129)
1D5RA (130)
1D5RA (130)
1D5RA (136)
1D5RA (155)
1D5RA (165)
1D5RA (165)
1D5RA (246)


1D5RA (318)
1D5RA (319)
1D5RA (320)
1D5RA (324)
P60484 PTEN_HUMAN lhermitte-duclos disease p.Leu112Pro
1D5RA (112)
P60484 PTEN_HUMAN bannayan-riley-ruvalcaba syndrome p.Ala34Asp
p.Tyr68His
p.Cys105Phe
p.Cys105Tyr
p.Asp107Tyr
p.Ile135Val
p.Ser170Arg
p.Pro246Leu
1D5RA (34)
1D5RA (68)
1D5RA (105)
1D5RA (105)
1D5RA (107)
1D5RA (135)
1D5RA (170)
1D5RA (246)
P60484 PTEN_HUMAN squamous cell carcinoma of the head and neck p.Ala121Gly
1D5RA (121)
P60484 PTEN_HUMAN endometrial cancer p.His123Tyr
1D5RA (123)
P60484 PTEN_HUMAN proteus syndrome
P60484 PTEN_HUMAN glioma 2
P60484 PTEN_HUMAN vacterl association with hydrocephalus
P60484 PTEN_HUMAN prostate cancer p.Met134Leu
1D5RA (134)
P60484 PTEN_HUMAN macrocephaly/autism syndrome p.His93Arg
p.Phe241Ser
p.Asp252Gly
1D5RA (93)
1D5RA (241)
1D5RA (252)
P60484 PTEN_HUMAN chromosome 10q23 deletion syndrome