TSC2 c.248A>G ;(p.K83R)

Variant ID: 16-2103365-A-G

NM_000548.3(TSC2):c.248A>G;(p.K83R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: TSC2: 248A>G; K83R
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, 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: TSC2: K83R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page