KIT c.2573T>C ;(p.F858S)

Variant ID: 4-55602752-T-C

NM_000222.2(KIT):c.2573T>C;(p.F858S)

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: F858S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Diversity across major and candidate genes in European local pig breeds.

Plos One
Muñoz, María M; Bozzi, Riccardo R; García, Fabián F; Núñez, Yolanda Y; Geraci, Claudia C; Crovetti, Alessandro A; García-Casco, Juan J; Alves, Estefania E; Škrlep, Martin M; Charneca, Rui R; Martins, Jose M JM; Quintanilla, Raquel R; Tibau, Joan J; Kušec, Goran G; Djurkin-Kušec, Ivona I; Mercat, Marie J MJ; Riquet, Juliette J; Estellé, Jordi J; Zimmer, Christoph C; Razmaite, Violeta V; Araujo, Jose P JP; Radović, Čedomir Č; Savić, Radomir R; Karolyi, Danijel D; Gallo, Maurizio M; Čandek-Potokar, Marjeta M; Fontanesi, Luca L; Fernández, Ana I AI; Óvilo, Cristina C
Publication Date: 2018

Variant appearance in text: KIT: 2573T>C
PubMed Link: 30458028
Variant Present in the following documents:
  • Main text
  • pone.0207475.pdf
View BVdb publication page



Identification of a novel point mutation of mouse proto-oncogene c-kit through N-ethyl-N-nitrosourea mutagenesis.

Genetics
Ruan, Hai-Bin HB; Zhang, Nian N; Gao, Xiang X
Publication Date: 2005-02

Variant appearance in text: KIT: F858S
PubMed Link: 15731517
Variant Present in the following documents:
  • Main text
View BVdb publication page