EGFR c.2189T>C ;(p.L730P)

Variant ID: 7-55242419-T-C

NM_005228.3(EGFR):c.2189T>C;(p.L730P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: EGFR: L730P
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: EGFR: L730P
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: L730P
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Missense Mutations in Exons 18-24 of EGFR in Hepatocellular Carcinoma Tissues.

Biomed Research International
Panvichian, Ravat R; Tantiwetrueangdet, Anchalee A; Sornmayura, Pattana P; Leelaudomlipi, Surasak S
Publication Date: 2015

Variant appearance in text: EGFR: 2189T>C; L730P
PubMed Link: 26436086
Variant Present in the following documents:
  • Main text
  • BMRI2015-171845.pdf
View BVdb publication page



Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia.

Bmc Cancer
Abedi-Ardekani, Behnoush B; Dar, Nazir Ahmad NA; Mir, Mohammad Muzaffar MM; Zargar, Showkat Ahmad SA; Lone, M Muqbool MM; Martel-Planche, Ghyslaine G; Villar, Stéphanie S; Mounawar, Mounia M; Saidi, Farrokh F; Malekzadeh, Reza R; Hainaut, Pierre P
Publication Date: 2012-12-17

Variant appearance in text: EGFR: L730P
PubMed Link: 23244191
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-602.pdf
View BVdb publication page