PTEN c.400A>T ;(p.M134L)

Variant ID: 10-89692916-A-T

NM_000314.4(PTEN):c.400A>T;(p.M134L)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: M134L
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: M134L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: PTEN: M134L
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: M134L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: M134L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes.

Cold Spring Harbor Perspectives In Medicine
Hasle, Nicholas N; Matreyek, Kenneth A KA; Fowler, Douglas M DM
Publication Date: 2019-11-01

Variant appearance in text: PTEN: M134L
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
View BVdb publication page



PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xu, Jian-Ming JM; Wang, Yan Y; Wang, You-Liang YL; Wang, Yan Y; Liu, Tao T; Ni, Ming M; Li, Man-Sheng MS; Lin, Li L; Ge, Fei-Jiao FJ; Gong, Chun C; Gu, Jun-Yan JY; Jia, Ru R; Wang, He-Fei HF; Chen, Yu-Ling YL; Liu, Rong-Rui RR; Zhao, Chuan-Hua CH; Tan, Zhao-Li ZL; Jin, Yang Y; Zhu, Yun-Ping YP; Ogino, Shuji S; Qian, Zhi-Rong ZR
Publication Date: 2017-08-15

Variant appearance in text: PTEN: 400A>T; M134L
PubMed Link: 28424201
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PTEN: M134L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PTEN: M134L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Challenges in targeting cancer metabolism for cancer therapy.

Embo Reports
Yamaguchi, Ryuji R; Perkins, Guy G
Publication Date: 2012-12

Variant appearance in text: PTEN: M134L
PubMed Link: 23146898
Variant Present in the following documents:
  • Main text
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: M134L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Protean PTEN: form and function.

American Journal Of Human Genetics
Waite, Kristin A KA; Eng, Charis C
Publication Date: 2002-04

Variant appearance in text: PTEN: M134L
PubMed Link: 11875759
Variant Present in the following documents:
  • Main text
View BVdb publication page