KIT c.1953G>A ;(p.M651I)

Variant ID: 4-55594250-G-A

NM_000222.2(KIT):c.1953G>A;(p.M651I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KIT: M651I
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: M651I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Transcriptomic analysis and mutational status of IDH1 in paired primary-recurrent intrahepatic cholangiocarcinoma.

Bmc Genomics
Peraldo-Neia, C C; Ostano, P P; Cavalloni, G G; Pignochino, Y Y; Sangiolo, D D; De Cecco, L L; Marchesi, E E; Ribero, D D; Scarpa, A A; De Rose, A M AM; Giuliani, A A; Calise, F F; Raggi, C C; Invernizzi, P P; Aglietta, M M; Chiorino, G G; Leone, F F
Publication Date: 2018-06-05

Variant appearance in text: KIT: 1953G>A
PubMed Link: 29871612
Variant Present in the following documents:
  • 12864_2018_4829_MOESM13_ESM.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: M651I
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Oncotarget
Zhang, Rui R; Ding, Jiansheng J; Han, Yanxi Y; Yi, Lang L; Xie, Jiehong J; Yang, Xin X; Fan, Gaowei G; Wang, Guojing G; Hao, Mingju M; Zhang, Dong D; Zhang, Kuo K; Lin, Guigao G; Li, Jinming J
Publication Date: 2016-09-06

Variant appearance in text: KIT: 1953G>A
PubMed Link: 27542269
Variant Present in the following documents:
  • Main text
  • oncotarget-07-58500.pdf
View BVdb publication page



Concomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors.

Oncotarget
Rossi, Sabrina S; Sbaraglia, Marta M; Dell'Orto, Marta Campo MC; Gasparotto, Daniela D; Cacciatore, Matilde M; Boscato, Elena E; Carraro, Valentina V; Toffolatti, Luisa L; Gallina, Giovanna G; Niero, Monia M; Pilozzi, Emanuela E; Mandolesi, Alessandra A; Sessa, Fausto F; Sonzogni, Aurelio A; Mancini, Cristina C; Mazzoleni, Guido G; Romeo, Salvatore S; Maestro, Roberta R; Dei Tos, Angelo P AP
Publication Date: 2016-05-24

Variant appearance in text: KIT: Met651Ile
PubMed Link: 27097112
Variant Present in the following documents:
  • Main text
  • oncotarget-07-30109.pdf
View BVdb publication page