EGFR c.2248_2274del ;(p.A750_E758del)

Variant ID: 7-55242474-AGAAGCAACATCTCCGAAAGCCAACAAG-A

NM_005228.3(EGFR):c.2248_2274del;(p.A750_E758del)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular Characteristics and Clinical Outcomes of EGFR Exon 19 C-Helix Deletion in Non-Small Cell Lung Cancer and Response to EGFR TKIs.

Translational Oncology
Xu, Chun-Wei CW; Lei, Lei L; Wang, Wen-Xian WX; Lin, Li L; Zhu, You-Cai YC; Wang, Hong H; Miao, Li-Yun LY; Wang, Li-Ping LP; Zhuang, Wu W; Fang, Mei-Yu MY; Lv, Tang-Feng TF; Song, Yong Y
Publication Date: 2020-09

Variant appearance in text: EGFR: A750_E758del
PubMed Link: 32492620
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients.

Nature Communications
Chabon, Jacob J JJ; Simmons, Andrew D AD; Lovejoy, Alexander F AF; Esfahani, Mohammad S MS; Newman, Aaron M AM; Haringsma, Henry J HJ; Kurtz, David M DM; Stehr, Henning H; Scherer, Florian F; Karlovich, Chris A CA; Harding, Thomas C TC; Durkin, Kathleen A KA; Otterson, Gregory A GA; Purcell, W Thomas WT; Camidge, D Ross DR; Goldman, Jonathan W JW; Sequist, Lecia V LV; Piotrowska, Zofia Z; Wakelee, Heather A HA; Neal, Joel W JW; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2016-06-10

Variant appearance in text: EGFR: 2247_2273del
PubMed Link: 27283993
Variant Present in the following documents:
  • ncomms11815-s2.xlsx, sheet 1
View BVdb publication page