KIT c.1737T>C ;(p.D579=)

Variant ID: 4-55593671-T-C

NM_000222.2(KIT):c.1737T>C;(p.D579=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Next generation sequencing of glioblastoma circulating tumor cells: non-invasive solution for disease monitoring.

American Journal Of Translational Research
Kolostova, Katarina K; Pospisilova, Eliska E; Pavlickova, Vladimira V; Bartos, Robert R; Sames, Martin M; Pawlak, Ireneusz I; Bobek, Vladimir V
Publication Date: 2021

Variant appearance in text: KIT: 1737T>C; D579D
PubMed Link: 34150029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: D579D
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: KIT: Asp579Asp
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page