PTEN c.743C>A ;(p.P248H)

Variant ID: 10-89717718-C-A

NM_000314.4(PTEN):c.743C>A;(p.P248H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: PTEN: 743C>A
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: PTEN: P248H
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: P248H
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 743C>A; P248H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: PTEN: 743C>A; Pro248His
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PTEN: P248H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page