KIT c.1899A>G ;(p.E633=)

Variant ID: 4-55594196-A-G

NM_000222.2(KIT):c.1899A>G;(p.E633=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports
D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F
Publication Date: 2019-11-21

Variant appearance in text: KIT: 1899A>G; E633E
PubMed Link: 31754145
Variant Present in the following documents:
  • 41598_2019_53660_MOESM1_ESM.pdf
View BVdb publication page



Divergent Evolutional Mode and Purifying Selection of the KIT Gene in European and Asian Domestic Pig Breeds.

Biomed Research International
Niu, Lili L; Shi, KeYu K; Xie, Jing-Jing JJ; Liu, Sen S; Zhong, Tao T
Publication Date: 2018

Variant appearance in text: KIT: 1899A>G
PubMed Link: 30211229
Variant Present in the following documents:
  • Main text
  • BMRI2018-8932945.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: E633E
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