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KIT c.1451A>G ;(p.K484R)
Variant ID: 4-55592127-A-G
NM_000222.2(
KIT
):c.1451A>G;(p.K484R)
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:
BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center.
Annals Of Translational Medicine
Ren, Min M; Zhang, Jing J; Kong, Yunyi Y; Bai, Qianming Q; Qi, Peng P; Zhang, Ling L; Wang, Qian Q; Zhou, Xiaoyan X; Chen, Yong Y; Zhu, Xiaoli X
Publication Date: 2022-01
Variant appearance in text: KIT: K484R
PubMed Link:
35282092
Variant Present in the following documents:
Main text
atm-10-02-31.pdf
View BVdb publication page
Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
Immunology
Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ
Publication Date: 2012-11
Variant appearance in text: KIT: K484R
PubMed Link:
22957768
Variant Present in the following documents:
Main text
View BVdb publication page