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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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