KIT c.2435G>A ;(p.G812D)

Variant ID: 4-55599309-G-A

NM_000222.2(KIT):c.2435G>A;(p.G812D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: G812D
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: G812D
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



Inactivity of imatinib in gastrointestinal stromal tumors (GISTs) harboring a KIT activation-loop domain mutation (exon 17 mutation pN822K).

Oncotargets And Therapy
Spitaleri, Gianluca G; Biffi, Roberto R; Barberis, Massimo M; Fumagalli, Caterina C; Toffalorio, Francesca F; Catania, Chiara C; Noberasco, Cristina C; Lazzari, Chiara C; de Marinis, Filippo F; De Pas, Tommaso T
Publication Date: 2015

Variant appearance in text: KIT: G812D
PubMed Link: 26316776
Variant Present in the following documents:
  • Main text
  • ott-8-1997.pdf
View BVdb publication page