KIT c.2442C>T ;(p.A814=)

Variant ID: 4-55599316-C-T

NM_000222.2(KIT):c.2442C>T;(p.A814=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: KIT: 2442C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_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: A814A
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



[Frequency and clinical features of ASXL2 gene mutation in acute myeloid leukemia patients with AML1- ETO fusion gene positive].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Zhao, J X JX; Chen, X H XH; Li, J L JL; Pan, J J; Tan, Y H YH; Xu, Z F ZF; Ren, F G FG; Zhang, Y F YF; Xu, J J; Li, M Q MQ; Li, J J; Zhang, N N; Chang, J M JM; Wang, X J XJ; Wang, H W HW
Publication Date: 2016-08-14

Variant appearance in text: CD117: A814A
PubMed Link: 27587249
Variant Present in the following documents:
  • Main text
  • cjh-37-08-676.pdf
View BVdb publication page