ALK c.1539C>T ;(p.D513=)

Variant ID: 2-29543624-G-A

NM_004304.4(ALK):c.1539C>T;(p.D513=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: ALK: D513D
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: ALK: D513=
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: ALK: D513=
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page