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KIT c.1040A>G ;(p.Q347R)
Variant ID: 4-55573378-A-G
NM_000222.2(
KIT
):c.1040A>G;(p.Q347R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New Mechanisms of mTOR Pathway Activation in KIT-mutant Malignant GISTs.
Applied Immunohistochemistry & Molecular Morphology : Aimm
Lasota, Jerzy J; Kowalik, Artur A; Felisiak-Golabek, Anna A; Zięba, Sebastian S; Wang, Zeng-Feng ZF; Miettinen, Markku M
Publication Date: 2019-01
Variant appearance in text: KIT: 1040A>G
PubMed Link:
28777148
Variant Present in the following documents:
Main text
View BVdb publication page