ALK c.3574C>T ;(p.R1192W)

Variant ID: 2-29443643-G-A

NM_004304.4(ALK):c.3574C>T;(p.R1192W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Circulating tumor cell characterization of lung cancer brain metastases in the cerebrospinal fluid through single-cell transcriptome analysis.

Clinical And Translational Medicine
Ruan, Haoyu H; Zhou, Yihang Y; Shen, Jie J; Zhai, Yue Y; Xu, Ying Y; Pi, Linyu L; Huang, Ruofan R; Chen, Kun K; Li, Xiangyu X; Ma, Weizhe W; Wu, Zhiyuan Z; Deng, Xuan X; Wang, Xu X; Zhang, Chao C; Guan, Ming M
Publication Date: 2020-12

Variant appearance in text: ALK: Arg1192Trp
PubMed Link: 33377642
Variant Present in the following documents:
  • Main text
  • CTM2-10-e246-s001.pdf
  • CTM2-10-e246.pdf
View BVdb publication page



The genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: ALK: R1192W; rs534852056
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 2
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: R1192W
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Therapeutic management of neuro-oncologic patients - potential relevance of CSF liquid biopsy.

Theranostics
von Baumgarten, Louisa L; Kumbrink, Jörg J; Jung, Andreas A; Reischer, Anna A; Flach, Madeleine M; Liebmann, Sibylle S; Metzeler, Klaus H KH; Holch, Julian W JW; Niyazi, Maximilian M; Thon, Niklas N; Straube, Andreas A; von Bergwelt-Baildon, Michael M; Heinemann, Volker V; Kirchner, Thomas T; Westphalen, Christoph Benedikt CB
Publication Date: 2020

Variant appearance in text: ALK: 3574C>T; Arg1192Trp
PubMed Link: 31903155
Variant Present in the following documents:
  • Main text
  • thnov10p0856.pdf
View BVdb publication page



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: R1192W
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



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: ALK: 3574C>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page