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KIT c.1750_1751inv ;(p.F584N)
Variant ID: 4-55593684-TT-AA
NM_000222.2(
KIT
):c.1750_1751inv;(p.F584N)
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:
Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.
Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020
Variant appearance in text: KIT: F584N
PubMed Link:
32082541
Variant Present in the following documents:
Main text
13578_2020_Article_377.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: F584N
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page