KIT c.164G>A ;(p.R55K)

Variant ID: 4-55561774-G-A

NM_000222.2(KIT):c.164G>A;(p.R55K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: KIT: 164G>A; Arg55Lys
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: KIT: 164G>A; Arg55Lys
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Protein Ensembles: How Does Nature Harness Thermodynamic Fluctuations for Life? The Diverse Functional Roles of Conformational Ensembles in the Cell.

Chemical Reviews
Wei, Guanghong G; Xi, Wenhui W; Nussinov, Ruth R; Ma, Buyong B
Publication Date: 2016-06-08

Variant appearance in text: KIT: R55K
PubMed Link: 26807783
Variant Present in the following documents:
  • Main text
View BVdb publication page