EGFR c.2101C>T ;(p.Q701*)

Variant ID: 7-55241653-C-T

NM_005228.3(EGFR):c.2101C>T;(p.Q701*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: EGFR: 2101C>T; Q701*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: EGFR: 2101C>T; Gln701Ter
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
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: EGFR: Q701*
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Epidermal growth factor receptor somatic mutation analysis in 354 Chinese patients with non-small cell lung cancer.

Oncology Letters
Quan, Xueping X; Gao, Hongjun H; Wang, Zhikuan Z; Li, Jie J; Zhao, Wentao W; Liang, Wei W; Yu, Qiang Q; Guo, Dongliang D; Hao, Zhanping Z; Liu, Jingxin J
Publication Date: 2018-02

Variant appearance in text: EGFR: Q701X
PubMed Link: 29434916
Variant Present in the following documents:
  • Main text
View BVdb publication page