KIT c.2484C>T ;(p.N828=)

Variant ID: 4-55599358-C-T

NM_000222.2(KIT):c.2484C>T;(p.N828=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: KIT: 2484C>T; rs141347955
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan Journal Of Medical Genetics : Bjmg
Staninova-Stojovska, M M; Matevska-Geskovska, N N; Panovski, M M; Angelovska, B B; Mitrevski, N N; Ristevski, M M; Jovanovic, R R; Dimovski, A J AJ
Publication Date: 2019-12

Variant appearance in text: KIT: 2484C>T; Asn828=; rs141347955
PubMed Link: 31942411
Variant Present in the following documents:
  • Main text
  • bjmg-22-005_sm.pdf
  • bjmg-22-005.pdf
View BVdb publication page



Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: KIT: N828N
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 5
View BVdb publication page



Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Oncotarget
Chatterjee, Anindya A; Ghosh, Joydeep J; Kapur, Reuben R
Publication Date: 2015-07-30

Variant appearance in text: KIT: N828N
PubMed Link: 26158763
Variant Present in the following documents:
  • Main text
  • oncotarget-06-18250.pdf
View BVdb publication page