PTEN c.115G>A ;(p.A39T)

Variant ID: 10-89653817-G-A

NM_000314.4(PTEN):c.115G>A;(p.A39T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: PTEN: A39T
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: PTEN: A39T
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

Jama Network Open
Yehia, Lamis L; Seyfi, Marilyn M; Niestroj, Lisa-Marie LM; Padmanabhan, Roshan R; Ni, Ying Y; Frazier, Thomas W TW; Lal, Dennis D; Eng, Charis C
Publication Date: 2020-01-03

Variant appearance in text: PTEN: Ala39Thr
PubMed Link: 32003824
Variant Present in the following documents:
  • Main text
View BVdb publication page



KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 115G>A; Ala39Thr
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: A39T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page