KIT c.1684G>A ;(p.E562K)

Variant ID: 4-55593618-G-A

NM_000222.2(KIT):c.1684G>A;(p.E562K)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: KIT: 1684G>A; E562K
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology
Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S
Publication Date: 2020-06

Variant appearance in text: KIT: 1684G>A; Glu562Lys
PubMed Link: 32236636
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Mutational Profile of Driver Genes in Brazilian Melanomas.

Journal Of Global Oncology
Vicente, Anna Luiza S A ALSA; Crovador, Camila S CS; Macedo, Graziela G; Scapulatempo-Neto, Cristovam C; Reis, Rui M RM; Vazquez, Vinicius L VL
Publication Date: 2019-11

Variant appearance in text: KIT: Glu562Lys
PubMed Link: 31756131
Variant Present in the following documents:
  • JGO.19.00169.pdf
View BVdb publication page



Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12

Variant appearance in text: KIT: E562K
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: E562K
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: KIT: 1684G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: KIT: 1684G>A; E562K
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: KIT: E562K
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Journal Of Neuro-Oncology
Maher, Ossama M OM; Khatua, Soumen S; Mukherjee, Devashis D; Olar, Adriana A; Lazar, Alexander A; Luthra, Raja R; Liu, Diane D; Wu, Jimin J; Ketonen, Leena L; Zaky, Wafik W
Publication Date: 2016-03

Variant appearance in text: KIT: 1684G>A
PubMed Link: 26718692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: E562K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page