KIT c.2456A>G ;(p.N819S)

Variant ID: 4-55599330-A-G

NM_000222.2(KIT):c.2456A>G;(p.N819S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20

Variant appearance in text: KIT: N819S
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
View BVdb publication page



The secondary KIT mutation p.Ala510Val in a cutaneous mast cell tumour carrying the activating mutation p.Asn508Ile confers resistance to masitinib in dogs.

Bmc Veterinary Research
Gentilini, Fabio F; Turba, Maria Elena ME; Dally, Claire C; Takanosu, Masamine M; Kurita, Sena S; Bonkobara, Makoto M
Publication Date: 2020-02-19

Variant appearance in text: KIT: 2456A>G
PubMed Link: 32075643
Variant Present in the following documents:
  • 12917_2020_Article_2284.pdf
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: N819S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: N819S
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page