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KIT c.2449A>T ;(p.I817F)
Variant ID: 4-55599323-A-T
NM_000222.2(
KIT
):c.2449A>T;(p.I817F)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Landscape of drug-resistance mutations in kinase regulatory hotspots.
Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20
Variant appearance in text: KIT: I817F
PubMed Link:
32510566
Variant Present in the following documents:
Main text
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: I817F
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Mutant IDH1 confers an in vivo growth in a melanoma cell line with BRAF mutation.
The American Journal Of Pathology
Shibata, Tatsuhiro T; Kokubu, Akiko A; Miyamoto, Masashi M; Sasajima, Yuko Y; Yamazaki, Naoya N
Publication Date: 2011-03
Variant appearance in text: KIT: I817F
PubMed Link:
21356389
Variant Present in the following documents:
Main text
View BVdb publication page