ALK c.3745G>A ;(p.D1249N)

Variant ID: 2-29432743-C-T

NM_004304.4(ALK):c.3745G>A;(p.D1249N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Prospective Clinical Validation of the InVisionFirst-Lung Circulating Tumor DNA Assay for Molecular Profiling of Patients With Advanced Nonsquamous Non-Small-Cell Lung Cancer.

Jco Precision Oncology
Pritchett, Michael A MA; Camidge, D Ross DR; Patel, Manu M; Khatri, Jamil J; Boniol, Steven S; Friedman, Elke K EK; Khomani, Abderrahim A; Dalia, Samir S; Baker-Neblett, Katherine K; Plagnol, Vincent V; Howarth, Karen D KD; Jones, Gregory R GR; Rosenfeld, Nitzan N; Morris, Clive D CD; Govindan, Ramaswamy R
Publication Date: 2019

Variant appearance in text: ALK: D1249N
PubMed Link: 32914040
Variant Present in the following documents:
  • Main text
  • PO.18.00299.pdf
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: ALK: 3745G>A; Asp1249Asn
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Compound EGFR mutation is frequently detected with co-mutations of actionable genes and associated with poor clinical outcome in lung adenocarcinoma.

Cancer Biology & Therapy
Kim, Eun Young EY; Cho, Eun Na EN; Park, Heae Surng HS; Hong, Ji Young JY; Lim, Seri S; Youn, Jong Pil JP; Hwang, Seung Yong SY; Chang, Yoon Soo YS
Publication Date: 2016

Variant appearance in text: ALK: 3745G>A
PubMed Link: 26785607
Variant Present in the following documents:
  • kcbt-17-03-1139235.pdf
View BVdb publication page



Genetic heterogeneity of actionable genes between primary and metastatic tumor in lung adenocarcinoma.

Bmc Cancer
Kim, Eun Young EY; Cho, Eun Na EN; Park, Heae Surng HS; Kim, Arum A; Hong, Ji Young JY; Lim, Seri S; Youn, Jong Pil JP; Hwang, Seung Yong SY; Chang, Yoon Soo YS
Publication Date: 2016-01-18

Variant appearance in text: ALK: 3745G>A
PubMed Link: 26782967
Variant Present in the following documents:
  • 12885_2016_2049_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: ALK: D1249N
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, DenĂ¡i R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA
Publication Date: 2015-02

Variant appearance in text: ALK: 3745G>A; D1249N
PubMed Link: 25148578
Variant Present in the following documents:
  • NIHMS622327-supplement-supplement_1.pdf
View BVdb publication page