KIT c.1807G>C ;(p.V603L)

Variant ID: 4-55594021-G-C

NM_000222.2(KIT):c.1807G>C;(p.V603L)

This variant was identified in 2 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: V603L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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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: V603L
PubMed Link: 24449920
Variant Present in the following documents:
  • Main text
View BVdb publication page