ALK c.3523A>G ;(p.N1175D)

Variant ID: 2-29443694-T-C

NM_004304.4(ALK):c.3523A>G;(p.N1175D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: ALK: N1175D
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Presence of cancer-associated mutations in exhaled breath condensates of healthy individuals by next generation sequencing.

Oncotarget
Youssef, Omar O; Knuuttila, Aija A; Piirilä, Päivi P; Böhling, Tom T; Sarhadi, Virinder V; Knuutila, Sakari S
Publication Date: 2017-03-14

Variant appearance in text: ALK: N1175D
PubMed Link: 28199989
Variant Present in the following documents:
  • Main text
  • oncotarget-08-18166.pdf
View BVdb publication page



Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.

Nature Genetics
Palomero, Teresa T; Couronné, Lucile L; Khiabanian, Hossein H; Kim, Mi-Yeon MY; Ambesi-Impiombato, Alberto A; Perez-Garcia, Arianne A; Carpenter, Zachary Z; Abate, Francesco F; Allegretta, Maddalena M; Haydu, J Erika JE; Jiang, Xiaoyu X; Lossos, Izidore S IS; Nicolas, Concha C; Balbin, Milagros M; Bastard, Christian C; Bhagat, Govind G; Piris, Miguel A MA; Campo, Elias E; Bernard, Olivier A OA; Rabadan, Raul R; Ferrando, Adolfo A AA
Publication Date: 2014-02

Variant appearance in text: ALK: N1175D
PubMed Link: 24413734
Variant Present in the following documents:
  • NIHMS549899-supplement-2.xlsx, sheet 1
View BVdb publication page