PTEN c.830C>G ;(p.T277R)

Variant ID: 10-89720679-C-G

NM_000314.4(PTEN):c.830C>G;(p.T277R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: PTEN: T277R
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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: T277R
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
  • Table3.xlsx, sheet 1
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: PTEN: 830C>G; T277R
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: PTEN: 830C>G; T277R
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.

Oncogene
Yang, Jr-M JM; Schiapparelli, P P; Nguyen, H-N HN; Igarashi, A A; Zhang, Q Q; Abbadi, S S; Amzel, L M LM; Sesaki, H H; Quiñones-Hinojosa, A A; Iijima, M M
Publication Date: 2017-06-29

Variant appearance in text: PTEN: T277R
PubMed Link: 28263967
Variant Present in the following documents:
  • onc2016493x4.pdf
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: 830C>G
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
View BVdb publication page



Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

Breast Cancer Research : Bcr
Banneau, Guillaume G; Guedj, Mickaël M; MacGrogan, Gaëtan G; de Mascarel, Isabelle I; Velasco, Valerie V; Schiappa, Renaud R; Bonadona, Valerie V; David, Albert A; Dugast, Catherine C; Gilbert-Dussardier, Brigitte B; Ingster, Olivier O; Vabres, Pierre P; Caux, Frederic F; de Reynies, Aurelien A; Iggo, Richard R; Sevenet, Nicolas N; Bonnet, Françoise F; Longy, Michel M
Publication Date: 2010

Variant appearance in text: PTEN: 830C>G; Thr277Arg
PubMed Link: 20712882
Variant Present in the following documents:
  • Main text
  • bcr2626.pdf
View BVdb publication page