ERBB2 c.118G>A ;(p.E40K)

Variant ID: 17-37863287-G-A

NM_004448.2(ERBB2):c.118G>A;(p.E40K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: ERBB2: 118G>A; Glu40Lys
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2021-02-12

Variant appearance in text: ERBB2: E40K; rs763193414
PubMed Link: 33579957
Variant Present in the following documents:
  • 41467_2021_21255_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification.

Genome Biology
Ng, Charlotte K Y CK; Martelotto, Luciano G LG; Gauthier, Arnaud A; Wen, Huei-Chi HC; Piscuoglio, Salvatore S; Lim, Raymond S RS; Cowell, Catherine F CF; Wilkerson, Paul M PM; Wai, Patty P; Rodrigues, Daniel N DN; Arnould, Laurent L; Geyer, Felipe C FC; Bromberg, Silvio E SE; Lacroix-Triki, Magali M; Penault-Llorca, Frederique F; Giard, Sylvia S; Sastre-Garau, Xavier X; Natrajan, Rachael R; Norton, Larry L; Cottu, Paul H PH; Weigelt, Britta B; Vincent-Salomon, Anne A; Reis-Filho, Jorge S JS
Publication Date: 2015-05-22

Variant appearance in text: ERBB2: E40K
PubMed Link: 25994018
Variant Present in the following documents:
  • 13059_2015_657_MOESM9_ESM.pdf
View BVdb publication page



Phosphoinositide 3-kinase signaling pathway mediated by p110α regulates invadopodia formation.

The Journal Of Cell Biology
Yamaguchi, Hideki H; Yoshida, Shuhei S; Muroi, Emi E; Yoshida, Nachi N; Kawamura, Masahiro M; Kouchi, Zen Z; Nakamura, Yoshikazu Y; Sakai, Ryuichi R; Fukami, Kiyoko K
Publication Date: 2011-06-27

Variant appearance in text: ERBB2: E40K
PubMed Link: 21708979
Variant Present in the following documents:
  • Main text
  • JCB_201009126.pdf
View BVdb publication page