EGFR c.1285_1286delinsGA ;(p.R429E)

Variant ID: 7-55225433-AG-GA

NM_005228.3(EGFR):c.1285_1286delinsGA;(p.R429E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

The Journal Of Investigative Dermatology
Campbell, Patrick P; Morton, Penny E PE; Takeichi, Takuya T; Salam, Amr A; Roberts, Nerys N; Proudfoot, Laura E LE; Mellerio, Jemima E JE; Aminu, Kingi K; Wellington, Cheryl C; Patil, Sachin N SN; Akiyama, Masashi M; Liu, Lu L; McMillan, James R JR; Aristodemou, Sophia S; Ishida-Yamamoto, Akemi A; Abdul-Wahab, Alya A; Petrof, Gabriela G; Fong, Kenneth K; Harnchoowong, Sarawin S; Stone, Kristina L KL; Harper, John I JI; Irwin McLean, W H WH; Simpson, Michael A MA; Parsons, Maddy M; McGrath, John A JA
Publication Date: 2014-10

Variant appearance in text: EGFR: Arg429Glu
PubMed Link: 24691054
Variant Present in the following documents:
  • Main text
  • emss-57794.pdf
View BVdb publication page