KIT c.1279C>T ;(p.Q427*)

Variant ID: 4-55589797-C-T

NM_000222.2(KIT):c.1279C>T;(p.Q427*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: KIT: 1279C>T; Q427*
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

Plos One
Ling, Chao C; Wang, Lin L; Wang, Zheng Z; Xu, Luming L; Sun, Lifang L; Yang, Hui H; Li, Wei-Dong WD; Wang, Kai K
Publication Date: 2015

Variant appearance in text: KIT: Q427X
PubMed Link: 25617745
Variant Present in the following documents:
  • pone.0116753.s002.xlsx, sheet 1
  • pone.0116753.s003.xlsx, sheet 1
View BVdb publication page