APP c.1555G>A ;(p.D519N)

Variant ID: 21-27327973-C-T

NM_000484.3(APP):c.1555G>A;(p.D519N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: APP: D519N
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: APP: D519N
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: APP: 1555G>A; D519N
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Disease-related mutations among Caribbean Hispanics with familial dementia.

Molecular Genetics & Genomic Medicine
Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R
Publication Date: 2014-09

Variant appearance in text: APP: 1555G>A
PubMed Link: 25333068
Variant Present in the following documents:
  • Main text
View BVdb publication page