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KIT c.1662A>C ;(p.E554D)
Variant ID: 4-55593596-A-C
NM_000222.2(
KIT
):c.1662A>C;(p.E554D)
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:
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: KIT: E554D
PubMed Link:
34887858
Variant Present in the following documents:
Table_4.xlsx, sheet 1
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: E554D
PubMed Link:
32082541
Variant Present in the following documents:
Main text
13578_2020_Article_377.pdf
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: KIT: E554D
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page