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KIT c.2083G>A ;(p.E695K)
Variant ID: 4-55595593-G-A
NM_000222.2(
KIT
):c.2083G>A;(p.E695K)
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:
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: KIT: 2083G>A; E695K
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Breast Cancer Research : Bcr
Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP
Publication Date: 2020-04-15
Variant appearance in text: KIT: 2083G>A; Glu695Lys
PubMed Link:
32295625
Variant Present in the following documents:
13058_2020_1273_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Management of early asymptomatic gastrointestinal stromal tumors of the stomach.
World Journal Of Gastrointestinal Endoscopy
Scherübl, Hans H; Faiss, Siegbert S; Knoefel, Wolfram-Trudo WT; Wardelmann, Eva E
Publication Date: 2014-07-16
Variant appearance in text: KIT: Glu695Lys
PubMed Link:
25031785
Variant Present in the following documents:
Main text
View BVdb publication page