KIT c.2468A>C ;(p.Y823S)

Variant ID: 4-55599342-A-C

NM_000222.2(KIT):c.2468A>C;(p.Y823S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Cancers
Szpechcinski, Adam A; Szolkowska, Malgorzata M; Winiarski, Sebastian S; Lechowicz, Urszula U; Wisniewski, Piotr P; Knetki-Wroblewska, Magdalena M
Publication Date: 2022-07-12

Variant appearance in text: KIT: Y823S
PubMed Link: 35884448
Variant Present in the following documents:
  • Main text
  • cancers-14-03388.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: Y823S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Molecular Profiling of Thymoma and Thymic Carcinoma: Genetic Differences and Potential Novel Therapeutic Targets.

Pathology Oncology Research : Por
Enkner, Franz F; Pichlhöfer, Bettina B; Zaharie, Alexandru Teodor AT; Krunic, Milica M; Holper, Tina Maria TM; Janik, Stefan S; Moser, Bernhard B; Schlangen, Karin K; Neudert, Barbara B; Walter, Karin K; Migschitz, Brigitte B; Müllauer, Leonhard L
Publication Date: 2017-07

Variant appearance in text: KIT: 2468A>C; Y823S
PubMed Link: 27844328
Variant Present in the following documents:
  • Main text
  • 12253_2016_Article_144.pdf
View BVdb publication page