ALK c.4334C>A ;(p.P1445H)

Variant ID: 2-29416619-G-T

NM_004304.4(ALK):c.4334C>A;(p.P1445H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: ALK: 4334C>A; Pro1445His
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: ALK: P1445H
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy
Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J
Publication Date: 2022-01-26

Variant appearance in text: ALK: P1445H
PubMed Link: 35078970
Variant Present in the following documents:
  • 41392_2021_838_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Orthotopic patient-derived xenografts of paediatric solid tumours.

Nature
Stewart, Elizabeth E; Federico, Sara M SM; Chen, Xiang X; Shelat, Anang A AA; Bradley, Cori C; Gordon, Brittney B; Karlstrom, Asa A; Twarog, Nathaniel R NR; Clay, Michael R MR; Bahrami, Armita A; Freeman, Burgess B BB; Xu, Beisi B; Zhou, Xin X; Wu, Jianrong J; Honnell, Victoria V; Ocarz, Monica M; Blankenship, Kaley K; Dapper, Jason J; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James J; Zhang, Jinghui J; Easton, John J; Pappo, Alberto A; Dyer, Michael A MA
Publication Date: 2017-09-07

Variant appearance in text: ALK: P1445H
PubMed Link: 28854174
Variant Present in the following documents:
  • NIHMS893713-supplement-Table_S3.xlsx, sheet 1
View BVdb publication page



The role of anaplastic lymphoma kinase in pediatric cancers.

Cancer Science
Takita, Junko J
Publication Date: 2017-10

Variant appearance in text: ALK: P1445H
PubMed Link: 28756644
Variant Present in the following documents:
  • CAS-108-1913.pdf
View BVdb publication page



Targeting oxidative stress in embryonal rhabdomyosarcoma.

Cancer Cell
Chen, Xiang X; Stewart, Elizabeth E; Shelat, Anang A AA; Qu, Chunxu C; Bahrami, Armita A; Hatley, Mark M; Wu, Gang G; Bradley, Cori C; McEvoy, Justina J; Pappo, Alberto A; Spunt, Sheri S; Valentine, Marcus B MB; Valentine, Virginia V; Krafcik, Fred F; Lang, Walter H WH; Wierdl, Monika M; Tsurkan, Lyudmila L; Tolleman, Viktor V; Federico, Sara M SM; Morton, Chris C; Lu, Charles C; Ding, Li L; Easton, John J; Rusch, Michael M; Nagahawatte, Panduka P; Wang, Jianmin J; Parker, Matthew M; Wei, Lei L; Hedlund, Erin E; Finkelstein, David D; Edmonson, Michael M; Shurtleff, Sheila S; Boggs, Kristy K; Mulder, Heather H; Yergeau, Donald D; Skapek, Steve S; Hawkins, Douglas S DS; Ramirez, Nilsa N; Potter, Philip M PM; Sandoval, John A JA; Davidoff, Andrew M AM; Mardis, Elaine R ER; Wilson, Richard K RK; Zhang, Jinghui J; Downing, James R JR; Dyer, Michael A MA; ,
Publication Date: 2013-12-09

Variant appearance in text: ALK: P1445H
PubMed Link: 24332040
Variant Present in the following documents:
  • Main text
View BVdb publication page