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KIT c.2041T>C ;(p.F681L)
Variant ID: 4-55595551-T-C
NM_000222.2(
KIT
):c.2041T>C;(p.F681L)
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:
Research Autopsy Demonstrates Polyclonal Acquired Resistance in a Patient With Metastatic GI Stromal Tumor.
Jco Precision Oncology
Paruchuri, Anoosha A; Chen, Hui-Zi HZ; Bonneville, Russell R; Reeser, Julie W JW; Wing, Michele R MR; Krook, Melanie A MA; Samorodnitsky, Eric E; Miya, Jharna J; Dao, Thuy T; Smith, Amy A; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S
Publication Date: 2020
Variant appearance in text: KIT: F681L
PubMed Link:
32923900
Variant Present in the following documents:
Main text
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: F681L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page