KIT c.2380G>A ;(p.A794T)

Variant ID: 4-55599254-G-A

NM_000222.2(KIT):c.2380G>A;(p.A794T)

This variant was identified in 4 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: 2380G>A; A794T
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications
Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y
Publication Date: 2020-11-04

Variant appearance in text: KIT: Ala794Thr
PubMed Link: 33149148
Variant Present in the following documents:
  • 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10
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: A794T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Inactivity of imatinib in gastrointestinal stromal tumors (GISTs) harboring a KIT activation-loop domain mutation (exon 17 mutation pN822K).

Oncotargets And Therapy
Spitaleri, Gianluca G; Biffi, Roberto R; Barberis, Massimo M; Fumagalli, Caterina C; Toffalorio, Francesca F; Catania, Chiara C; Noberasco, Cristina C; Lazzari, Chiara C; de Marinis, Filippo F; De Pas, Tommaso T
Publication Date: 2015

Variant appearance in text: KIT: A794T
PubMed Link: 26316776
Variant Present in the following documents:
  • Main text
  • ott-8-1997.pdf
View BVdb publication page