KIT c.1668G>T ;(p.Q556H)

Variant ID: 4-55593602-G-T

NM_000222.2(KIT):c.1668G>T;(p.Q556H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Rare c-KIT c.1926delA and c.1936T>G Mutations in Exon 13 Define Imatinib Resistance in Gastrointestinal Stromal Tumors and Melanoma Patients: Case Reports and Cell Experiments.

Frontiers In Molecular Biosciences
Yan, Chi C; Zhao, Chengzhi C; Yang, Ke K; Zhou, Hongyan H; Jing, Limin L; Zhao, Weixing W; Dou, Wenguang W; Xia, Qingxin Q; Ma, Jie J; Wei, Bing B; Guo, Yongjun Y
Publication Date: 2022

Variant appearance in text: KIT: Q556H
PubMed Link: 35720122
Variant Present in the following documents:
  • fmolb-09-730213.pdf
View BVdb publication page



Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: Q556H
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KIT: Gln556His
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Detection and monitoring of driver mutations by next-generation sequencing in squamous cell lung cancer patient and possible predictive biomarker of third generation EGFR-tyrosine kinase inhibitors.

Thoracic Cancer
Shen, Xiaoyan X; Shen, Jie J; Zhang, Hang H; Cheng, Yuxin Y; Yang, Yang Y; Gao, Jiahui J; Zhang, Yu Y; Li, Rutian R; Liu, Baorui B; Wang, Lifeng L
Publication Date: 2018-01

Variant appearance in text: KIT: Q556H
PubMed Link: 29143497
Variant Present in the following documents:
  • Main text
  • TCA-9-181.pdf
View BVdb publication page



Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors.

The Journal Of Molecular Diagnostics : Jmd
Wardelmann, Eva E; Hrychyk, Aksana A; Merkelbach-Bruse, Sabine S; Pauls, Katharina K; Goldstein, Jennifer J; Hohenberger, Peter P; Losen, Inge I; Manegold, Christoph C; Büttner, Reinhard R; Pietsch, Torsten T
Publication Date: 2004-08

Variant appearance in text: KIT: Q556H
PubMed Link: 15269295
Variant Present in the following documents:
  • Main text
View BVdb publication page