ALK c.3832T>C ;(p.Y1278H)

Variant ID: 2-29432656-A-G

NM_004304.4(ALK):c.3832T>C;(p.Y1278H)

This variant was identified in 2 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: Y1278H
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



ALK mutations conferring differential resistance to structurally diverse ALK inhibitors.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Heuckmann, Johannes M JM; Hölzel, Michael M; Sos, Martin L ML; Heynck, Stefanie S; Balke-Want, Hyatt H; Koker, Mirjam M; Peifer, Martin M; Weiss, Jonathan J; Lovly, Christine M CM; Grütter, Christian C; Rauh, Daniel D; Pao, William W; Thomas, Roman K RK
Publication Date: 2011-12-01

Variant appearance in text: ALK: Y1278H
PubMed Link: 21948233
Variant Present in the following documents:
  • Main text
View BVdb publication page