KIT c.1407T>G ;(p.F469L)

Variant ID: 4-55592083-T-G

NM_000222.2(KIT):c.1407T>G;(p.F469L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: F469L
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.

Journal Of Neuro-Oncology
van de Nes, Johannes J; Gessi, Marco M; Sucker, Antje A; Möller, Inga I; Stiller, Mathias M; Horn, Susanne S; Scholz, Simone L SL; Pischler, Carina C; Stadtler, Nadine N; Schilling, Bastian B; Zimmer, Lisa L; Hillen, Uwe U; Scolyer, Richard A RA; Buckland, Michael E ME; Lauriola, Libero L; Pietsch, Torsten T; Waha, Andreas A; Schadendorf, Dirk D; Murali, Rajmohan R; Griewank, Klaus G KG
Publication Date: 2016-05

Variant appearance in text: KIT: F469L
PubMed Link: 26744134
Variant Present in the following documents:
  • Main text
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: F469L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

Bmc Medical Genetics
Merkelbach-Bruse, Sabine S; Dietmaier, Wolfgang W; Füzesi, Laszlo L; Gaumann, Andreas A; Haller, Florian F; Kitz, Julia J; Krohn, Antje A; Mechtersheimer, Gunhild G; Penzel, Roland R; Schildhaus, Hans-Ulrich HU; Schneider-Stock, Regine R; Simon, Ronald R; Wardelmann, Eva E
Publication Date: 2010-07-04

Variant appearance in text: KIT: F469L
PubMed Link: 20598160
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-106.pdf
View BVdb publication page