PTEN c.249C>A ;(p.C83*)

Variant ID: 10-89690842-C-A

NM_000314.4(PTEN):c.249C>A;(p.C83*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: PTEN: 249C>A; C83*
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.

Frontiers In Pharmacology
Lee, Junghan J; Ha, Sungji S; Lee, Seung-Tae ST; Park, Sung-Gyun SG; Shin, Saeam S; Choi, Jong Rak JR; Cheon, Keun-Ah KA
Publication Date: 2020

Variant appearance in text: PTEN: 249C>A; Cys83Ter
PubMed Link: 32477112
Variant Present in the following documents:
  • Main text
  • fphar-11-00585.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: C83*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Ape1 guides DNA repair pathway choice that is associated with drug tolerance in glioblastoma.

Scientific Reports
Ströbel, Thomas T; Madlener, Sibylle S; Tuna, Serkan S; Vose, Sarah S; Lagerweij, Tonny T; Wurdinger, Thomas T; Vierlinger, Klemens K; Wöhrer, Adelheid A; Price, Brendan D BD; Demple, Bruce B; Saydam, Okay O; Saydam, Nurten N
Publication Date: 2017-08-29

Variant appearance in text: PTEN: 249C>A
PubMed Link: 28852018
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10013.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PTEN: 249C>A; C83*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia
Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH
Publication Date: 2009-08

Variant appearance in text: PTEN: C83*
PubMed Link: 19340001
Variant Present in the following documents:
  • Main text
  • nihms98506.pdf
View BVdb publication page