ALK c.3509T>C ;(p.I1170T)

Variant ID: 2-29445216-A-G

NM_004304.4(ALK):c.3509T>C;(p.I1170T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic ALK alterations in primary and relapsed neuroblastoma.

British Journal Of Cancer
Rosswog, Carolina C; Fassunke, Jana J; Ernst, Angela A; Schömig-Markiefka, Birgid B; Merkelbach-Bruse, Sabine S; Bartenhagen, Christoph C; Cartolano, Maria M; Ackermann, Sandra S; Theissen, Jessica J; Blattner-Johnson, Mirjam M; Jones, Barbara B; Schramm, Kathrin K; Altmüller, Janine J; Nürnberg, Peter P; Ortmann, Monika M; Berthold, Frank F; Peifer, Martin M; Büttner, Reinhard R; Westermann, Frank F; Schulte, Johannes H JH; Simon, Thorsten T; Hero, Barbara B; Fischer, Matthias M
Publication Date: 2023-02-17

Variant appearance in text: ALK: I1170T
PubMed Link: 36807339
Variant Present in the following documents:
  • 41416_2023_2208_MOESM1_ESM.pdf
View BVdb publication page



Integrative analysis identifies lincRNAs up- and downstream of neuroblastoma driver genes.

Scientific Reports
Rombaut, Dries D; Chiu, Hua-Sheng HS; Decaesteker, Bieke B; Everaert, Celine C; Yigit, Nurten N; Peltier, Agathe A; Janoueix-Lerosey, Isabelle I; Bartenhagen, Christoph C; Fischer, Matthias M; Roberts, Stephen S; D'Haene, Nicky N; De Preter, Katleen K; Speleman, Frank F; Denecker, Geertrui G; Sumazin, Pavel P; Vandesompele, Jo J; Lefever, Steve S; Mestdagh, Pieter P
Publication Date: 2019-04-05

Variant appearance in text: ALK: I1170T
PubMed Link: 30952905
Variant Present in the following documents:
  • 41598_2019_42107_MOESM1_ESM.pdf
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: I1170T
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
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: I1170T
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page