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KIT c.2464_2465delinsCT ;(p.N822L)
Variant ID: 4-55599338-AA-CT
NM_000222.2(
KIT
):c.2464_2465delinsCT;(p.N822L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.
Cancers
El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B
Publication Date: 2022-07-17
Variant appearance in text: KIT: N822L
PubMed Link:
35884535
Variant Present in the following documents:
Main text
cancers-14-03474.pdf
View BVdb publication page
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: N822L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Receptor Tyrosine Kinase-Targeted Cancer Therapy.
International Journal Of Molecular Sciences
Yamaoka, Toshimitsu T; Kusumoto, Sojiro S; Ando, Koichi K; Ohba, Motoi M; Ohmori, Tohru T
Publication Date: 2018-11-06
Variant appearance in text: KIT: N822L
PubMed Link:
30404198
Variant Present in the following documents:
Main text
ijms-19-03491.pdf
View BVdb publication page