KIT c.1673A>G ;(p.K558R)

Variant ID: 4-55593607-A-G

NM_000222.2(KIT):c.1673A>G;(p.K558R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: KIT: K558R
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: KIT: 1673A>G; Lys558Arg
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s005.xlsx, sheet 1
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



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: 1673A>G; K558R
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: K558R
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: K558R
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
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: K558R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
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: 1673A>G; K558R
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study.

World Journal Of Surgical Oncology
Rubió-Casadevall, Jordi J; Borràs, Joan Lluis JL; Carmona-García, Maria Carme MC; Ameijide, Alberto A; Gonzalez-Vidal, Allan A; Ortiz, Maria Rosa MR; Bosch, Ramon R; Riu, Francesc F; Parada, David D; Martí, Esther E; Miró, Josefina J; Sirvent, Juan Jose JJ; Galceran, Jaume J; Marcos-Gragera, Rafael R
Publication Date: 2015-02-13

Variant appearance in text: KIT: K558R
PubMed Link: 25885906
Variant Present in the following documents:
  • Main text
  • 12957_2015_Article_474.pdf
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: K558R
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
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: K558R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page