APP c.1456C>T ;(p.R486W)

Variant ID: 21-27347385-G-A

NM_000484.3(APP):c.1456C>T;(p.R486W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences
Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ
Publication Date: 2023-04-18

Variant appearance in text: APP: Arg486Trp
PubMed Link: 37108607
Variant Present in the following documents:
  • Main text
  • ijms-24-07446.pdf
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: APP: 1456C>T; Arg486Trp
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 13
View BVdb publication page