KIT c.2446_2448delinsTAA ;(p.D816*)

Variant ID: 4-55599320-GAC-TAA

NM_000222.2(KIT):c.2446_2448delinsTAA;(p.D816*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Role and significance of c-KIT receptor tyrosine kinase in cancer: A review.

Bosnian Journal Of Basic Medical Sciences
Sheikh, Emana E; Tran, Tony T; Vranic, Semir S; Levy, Arkene A; Bonfil, R Daniel RD
Publication Date: 2022-09-16

Variant appearance in text: KIT: D816X
PubMed Link: 35490363
Variant Present in the following documents:
  • Main text
  • BJBMS-22-683.pdf
View BVdb publication page



XK-related protein 5 (XKR5) is a novel negative regulator of KIT/D816V-mediated transformation.

Oncogenesis
Sun, Jianmin J; Thingholm, Tine T; Højrup, Peter P; Rönnstrand, Lars L
Publication Date: 2018-06-18

Variant appearance in text: KIT: D816X
PubMed Link: 29910466
Variant Present in the following documents:
  • Main text
  • 41389_2018_Article_57.pdf
View BVdb publication page



Pharmacological treatment options for mast cell activation disease.

Naunyn-Schmiedeberg'S Archives Of Pharmacology
Molderings, Gerhard J GJ; Haenisch, Britta B; Brettner, Stefan S; Homann, Jürgen J; Menzen, Markus M; Dumoulin, Franz Ludwig FL; Panse, Jens J; Butterfield, Joseph J; Afrin, Lawrence B LB
Publication Date: 2016-07

Variant appearance in text: KIT: D816X
PubMed Link: 27132234
Variant Present in the following documents:
  • Main text
  • 210_2016_Article_1247.pdf
View BVdb publication page



Phenotypic and genotypic characteristics of mastocytosis according to the age of onset.

Plos One
Lanternier, Fanny F; Cohen-Akenine, Annick A; Palmerini, Fabienne F; Feger, Frédéric F; Yang, Ying Y; Zermati, Yael Y; Barète, Stéphane S; Sans, Beatrix B; Baude, Cédric C; Ghez, David D; Suarez, Felipe F; Delarue, Richard R; Casassus, Philippe P; Bodemer, Christine C; Catteau, Adeline A; Soppelsa, Frédérique F; Hanssens, Katia K; Arock, Michel M; Sobol, Hagay H; Fraitag, Sylvie S; Canioni, Danièle D; Moussy, Alain A; Launay, Jean Marie JM; Dubreuil, Patrice P; Hermine, Olivier O; Lortholary, Olivier O; ,
Publication Date: 2008-04-09

Variant appearance in text: KIT: D816X
PubMed Link: 18404201
Variant Present in the following documents:
  • Main text
  • pone.0001906.pdf
View BVdb publication page