Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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