KIT c.147C>A ;(p.R49=)

Variant ID: 4-55561757-C-A

NM_000222.2(KIT):c.147C>A;(p.R49=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Convergent evolution and multi-wave clonal invasion in H3 K27-altered diffuse midline gliomas treated with a PDGFR inhibitor.

Acta Neuropathologica Communications
Arunachalam, Sasi S; Szlachta, Karol K; Brady, Samuel W SW; Ma, Xiaotu X; Ju, Bensheng B; Shaner, Bridget B; Mulder, Heather L HL; Easton, John J; Raphael, Benjamin J BJ; Myers, Matthew M; Tinkle, Christopher C; Allen, Sariah J SJ; Orr, Brent A BA; Wetmore, Cynthia J CJ; Baker, Suzanne J SJ; Zhang, Jinghui J
Publication Date: 2022-05-31

Variant appearance in text: KIT: R49R
PubMed Link: 35642016
Variant Present in the following documents:
  • 40478_2022_Article_1381.pdf
View BVdb publication page



New advances in DPYD genotype and risk of severe toxicity under capecitabine.

Plos One
Etienne-Grimaldi, Marie-Christine MC; Boyer, Jean-Christophe JC; Beroud, Christophe C; Mbatchi, Litaty L; van Kuilenburg, André A; Bobin-Dubigeon, Christine C; Thomas, Fabienne F; Chatelut, Etienne E; Merlin, Jean-Louis JL; Pinguet, Frédéric F; Ferrand, Christophe C; Meijer, Judith J; Evrard, Alexandre A; Llorca, Laurence L; Romieu, Gilles G; Follana, Philippe P; Bachelot, Thomas T; Chaigneau, Loic L; Pivot, Xavier X; Dieras, Véronique V; Largillier, Rémy R; Mousseau, Mireille M; Goncalves, Anthony A; Roché, Henri H; Bonneterre, Jacques J; Servent, Véronique V; Dohollou, Nadine N; Château, Yann Y; Chamorey, Emmanuel E; Desvignes, Jean-Pierre JP; Salgado, David D; Ferrero, Jean-Marc JM; Milano, Gérard G
Publication Date: 2017

Variant appearance in text: rs72549301
PubMed Link: 28481884
Variant Present in the following documents:
  • Main text
  • pone.0175998.pdf
View BVdb publication page



Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Cancer Research
Offer, Steven M SM; Fossum, Croix C CC; Wegner, Natalie J NJ; Stuflesser, Alexander J AJ; Butterfield, Gabriel L GL; Diasio, Robert B RB
Publication Date: 2014-05-01

Variant appearance in text: rs72549301
PubMed Link: 24648345
Variant Present in the following documents:
  • Main text
View BVdb publication page