KIT c.2323C>A ;(p.Q775K)

Variant ID: 4-55598126-C-A

NM_000222.2(KIT):c.2323C>A;(p.Q775K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal
Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H
Publication Date: 2020-07

Variant appearance in text: KIT: Q775K
PubMed Link: 32608199
Variant Present in the following documents:
  • Main text
  • ymj-61-562.pdf
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: Q775K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page