KEGG   VARIANT: 5728v2
Entry
5728v2                      Variant                                
Name
PTEN mutation
Gene
PTEN  phosphatase and tensin homolog [KO:K01110]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L108P
ClinVar: 418436
COSM: 53084
Variation
mutation R130Q
ClinVar: 7829
dbSNP: rs121909229
COSM: 5033
Variation
mutation L139*
ClinVar: 427590
dbSNP: rs1085308048
COSM: 5294 3368150
Variation
mutation Q298*
ClinVar: 187657
dbSNP: rs371387815
COSM: 5156
Variation
mutation E157*
ClinVar: 7814
dbSNP: rs121909220
COSM: 921104
Variation
mutation D19N
ClinVar: 7837
dbSNP: rs121909233
COSM: 5057
Variation
mutation C211*
ClinVar: 7836
dbSNP: rs121909232
COSM: 5306
Variation
mutation V217I
ClinVar: 7838
dbSNP: rs121909234
COSM: 5058
Variation
mutation R335*
ClinVar: 7833
dbSNP: rs121909231
COSM: 5151
Variation
mutation H123Y
ClinVar: 189486
dbSNP: rs786204931
Variation
mutation G165R
ClinVar: 428256
dbSNP: rs587782603
Variation
mutation Q245*
ClinVar: 186396
dbSNP: rs786202918
COSM: 5159
Variation
mutation S59*
ClinVar: 404151
dbSNP: rs1060500116
COSM: 5313
Variation
mutation R130G
ClinVar: 375958
dbSNP: rs121909224
COSM: 5219
Variation
mutation R233*
ClinVar: 7813
dbSNP: rs121909219
COSM: 5154
Variation
mutation P95L
ClinVar: 189403
dbSNP: rs786204856
COSM: 5105
Variation
mutation M134L
COSM: 5204
Variation
mutation F90S
COSM: 5141
Variation
mutation D24N
ClinVar: 185200
dbSNP: rs786201995
COSM: 5079
Variation
mutation H93D
COSM: 5283
Variation
mutation V255A
COSM: 5046
Variation
mutation G129R
ClinVar: 189484
dbSNP: rs786204929
Variation
mutation S170R
ClinVar: 7815
dbSNP: rs121909221
Variation
mutation K13*
COSM: 86063
Variation
mutation P38S
COSM: 5142
Variation
mutation P38L
COSM: 3736937
Variation
mutation Y76*
COSM: 5322
Variation
mutation C105R
COSM: 23625
Variation
mutation H118L
COSM: 3736941
Variation
mutation T167A
COSM: 5052
Variation
mutation D162V
COSM: 1167954
Variation
mutation G127E
COSM: 5143
Variation
mutation P244S
COSM: 5119
Variation
mutation P339L
COSM: 5148
Variation
mutation K267Rfs
ClinVar: 92828
dbSNP: rs121913289
Variation
mutation K164Rfs
ClinVar: 189448
dbSNP: rs786204900
Network
nt06214  PI3K signaling (cancer)
nt06263  Hepatocellular carcinoma
nt06267  Small cell lung cancer
nt06268  Melanoma
nt06270  Breast cancer
nt06271  Endometrial cancer
nt06272  Prostate cancer
nt06273  Glioma
nt06530  PI3K signaling
Disease
H00013  Small cell lung cancer
H00024  Prostate cancer
H00026  Endometrial cancer
H00031  Breast cancer
H00038  Melanoma
H00042  Glioma
H00048  Hepatocellular carcinoma
Reference
PMID:9256433
  Authors
Myers MP, Stolarov JP, Eng C, Li J, Wang SI, Wigler MH, Parsons R, Tonks NK
  Title
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
  Journal
Proc Natl Acad Sci U S A 94:9052-7 (1997)
DOI:10.1073/pnas.94.17.9052
Reference
PMID:9072974
  Authors
Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R
  Title
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
  Journal
Science 275:1943-7 (1997)
DOI:10.1126/science.275.5308.1943
Reference
PMID:9307275
  Authors
Tashiro H, Blazes MS, Wu R, Cho KR, Bose S, Wang SI, Li J, Parsons R, Ellenson LH
  Title
Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies.
  Journal
Cancer Res 57:3935-40 (1997)
Reference
PMID:10340391
  Authors
Yao YJ, Ping XL, Zhang H, Chen FF, Lee PK, Ahsan H, Chen CJ, Lee PH, Peacocke M, Santella RM, Tsou HC
  Title
PTEN/MMAC1 mutations in hepatocellular carcinomas.
  Journal
Oncogene 18:3181-5 (1999)
DOI:10.1038/sj.onc.1202659
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