PTEN c.428G>A ;(p.G143D)

Variant ID: 10-89692944-G-A

NM_000314.4(PTEN):c.428G>A;(p.G143D)

This variant was identified in 11 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: G143D
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer
Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X
Publication Date: 2021-01

Variant appearance in text: PTEN: G143D
PubMed Link: 33200540
Variant Present in the following documents:
  • TCA-12-181-s002.xlsx, sheet 1
View BVdb publication page



Combating acquired resistance to MAPK inhibitors in melanoma by targeting Abl1/2-mediated reactivation of MEK/ERK/MYC signaling.

Nature Communications
Tripathi, Rakshamani R; Liu, Zulong Z; Jain, Aditi A; Lyon, Anastasia A; Meeks, Christina C; Richards, Dana D; Liu, Jinpeng J; He, Daheng D; Wang, Chi C; Nespi, Marika M; Rymar, Andrey A; Wang, Peng P; Wilson, Melissa M; Plattner, Rina R
Publication Date: 2020-10-29

Variant appearance in text: PTEN: G143D
PubMed Link: 33122628
Variant Present in the following documents:
  • Main text
  • 41467_2020_19075_MOESM4_ESM.xlsx, sheet 1
  • 41467_2020_Article_19075.pdf
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: G143D
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: G143D
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: G143D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: PTEN: 428G>A; Gly143Glu
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice.

Nature Communications
Lu, I-Ling IL; Chen, Chien C; Tung, Chien-Yi CY; Chen, Hsin-Hung HH; Pan, Jia-Ping JP; Chang, Chia-Hsiang CH; Cheng, Jia-Shing JS; Chen, Yi-An YA; Wang, Chun-Hung CH; Huang, Chia-Wei CW; Kang, Yi-Ning YN; Chang, Hsin-Yun HY; Li, Lei-Li LL; Chang, Kai-Ping KP; Shih, Yang-Hsin YH; Lin, Chi-Hung CH; Kwan, Shang-Yeong SY; Tsai, Jin-Wu JW
Publication Date: 2018-06-27

Variant appearance in text: PTEN: G143D
PubMed Link: 29950674
Variant Present in the following documents:
  • 41467_2018_4880_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: G143D
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut
Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R
Publication Date: 2018-05

Variant appearance in text: PTEN: 428G>A; Gly143Asp
PubMed Link: 28389531
Variant Present in the following documents:
  • gutjnl-2016-312623supp002.pdf
View BVdb publication page



Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing.

Experimental And Molecular Pathology
Putra, Juan J; de Abreu, Francine B FB; Peterson, Jason D JD; Pipas, J Marc JM; Mody, Kabir K; Amos, Christopher I CI; Tsongalis, Gregory J GJ; Suriawinata, Arief A AA
Publication Date: 2015-10

Variant appearance in text: PTEN: 428G>A
PubMed Link: 26189129
Variant Present in the following documents:
  • Main text
View BVdb publication page