KIT c.2387G>A ;(p.R796K)

Variant ID: 4-55599261-G-A

NM_000222.2(KIT):c.2387G>A;(p.R796K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
Publication Date: 2021-07-02

Variant appearance in text: KIT: Arg796Lys
PubMed Link: 34215841
Variant Present in the following documents:
  • 41698_2021_202_MOESM1_ESM.pdf
View BVdb publication page



Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Diagnostics (Basel, Switzerland)
Sun, Woo Young WY; Lee, Jina J; Kim, Bong Kyun BK; Kim, Jong Ok JO; Park, Joonhong J
Publication Date: 2021-03-01

Variant appearance in text: KIT: 2387G>A; Arg796Lys
PubMed Link: 33804295
Variant Present in the following documents:
  • diagnostics-11-00416-s001.pdf
View BVdb publication page



Non-invasive lung cancer diagnosis and prognosis based on multi-analyte liquid biopsy.

Molecular Cancer
Chen, Kezhong K; Sun, Jianlong J; Zhao, Heng H; Jiang, Ruijingfang R; Zheng, Jianchao J; Li, Zhilong Z; Peng, Jiaxi J; Shen, Haifeng H; Zhang, Kai K; Zhao, Jin J; Zhu, Shida S; Wang, Yuying Y; Yang, Fan F; Wang, Jun J
Publication Date: 2021-01-29

Variant appearance in text: KIT: 2387G>A; R796K
PubMed Link: 33514352
Variant Present in the following documents:
  • 12943_2021_1323_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: KIT: 2387G>A; R796K
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1
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: R796K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: KIT: 2387G>A; R796K
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page