KIT c.1867_1868delinsGC ;(p.K623A)

Variant ID: 4-55594081-AA-GC

NM_000222.2(KIT):c.1867_1868delinsGC;(p.K623A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: K623A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Distinct cellular properties of oncogenic KIT receptor tyrosine kinase mutants enable alternative courses of cancer cell inhibition.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shi, Xiarong X; Sousa, Leiliane P LP; Mandel-Bausch, Elizabeth M EM; Tome, Francisco F; Reshetnyak, Andrey V AV; Hadari, Yaron Y; Schlessinger, Joseph J; Lax, Irit I
Publication Date: 2016-08-16

Variant appearance in text: KIT: K623A
PubMed Link: 27482095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure, domain organization, and different conformational states of stem cell factor-induced intact KIT dimers.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Opatowsky, Yarden Y; Lax, Irit I; Tomé, Francisco F; Bleichert, Franziska F; Unger, Vinzenz M VM; Schlessinger, Joseph J
Publication Date: 2014-02-04

Variant appearance in text: KIT: K623A
PubMed Link: 24449920
Variant Present in the following documents:
  • Main text
View BVdb publication page