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KIT c.2464A>G ;(p.N822D)
Variant ID: 4-55599338-A-G
NM_000222.2(
KIT
):c.2464A>G;(p.N822D)
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:
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: N822D
PubMed Link:
32510566
Variant Present in the following documents:
Main text
View BVdb publication page
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: N822D
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: N822D
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: KIT: N822D
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page