PTEN c.482G>A ;(p.R161K)

Variant ID: 10-89692998-G-A

NM_000314.4(PTEN):c.482G>A;(p.R161K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Application of Next-Generation Sequencing to Define Factors Related to Oral Cancer and Discover Novel Biomarkers.

Life (Basel, Switzerland)
Kim, Soyeon S; Lee, Joo Won JW; Park, Young-Seok YS
Publication Date: 2020-10-02

Variant appearance in text: PTEN: Arg161Lys
PubMed Link: 33023080
Variant Present in the following documents:
  • Main text
  • life-10-00228.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PTEN: 482G>A; Arg161Gln
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: PTEN: 482G>A; Arg161His
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
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: R161K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page