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KIT c.2467_2468delinsGC ;(p.Y823A)
Variant ID: 4-55599341-TA-GC
NM_000222.2(
KIT
):c.2467_2468delinsGC;(p.Y823A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: KIT: Y823A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Tyrosine 842 in the activation loop is required for full transformation by the oncogenic mutant FLT3-ITD.
Cellular And Molecular Life Sciences : Cmls
Kazi, Julhash U JU; Chougule, Rohit A RA; Li, Tianfeng T; Su, Xianwei X; Moharram, Sausan A SA; Rupar, Kaja K; Marhäll, Alissa A; Gazi, Mohiuddin M; Sun, Jianmin J; Zhao, Hui H; Rönnstrand, Lars L
Publication Date: 2017-07
Variant appearance in text: KIT: Y823A
PubMed Link:
28271164
Variant Present in the following documents:
Main text
18_2017_Article_2494.pdf
View BVdb publication page