KIT c.2376C>A ;(p.D792E)

Variant ID: 4-55599250-C-A

NM_000222.2(KIT):c.2376C>A;(p.D792E)

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: D792E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Hotspot mutations in KIT receptor differentially modulate its allosterically coupled conformational dynamics: impact on activation and drug sensitivity.

Plos Computational Biology
Chauvot de Beauchêne, Isaure I; Allain, Ariane A; Panel, Nicolas N; Laine, Elodie E; Trouvé, Alain A; Dubreuil, Patrice P; Tchertanov, Luba L
Publication Date: 2014-07

Variant appearance in text: KIT: D792E
PubMed Link: 25079768
Variant Present in the following documents:
  • Main text
  • pcbi.1003749.pdf
View BVdb publication page



Allosteric communication across the native and mutated KIT receptor tyrosine kinase.

Plos Computational Biology
Laine, Elodie E; Auclair, Christian C; Tchertanov, Luba L
Publication Date: 2012

Variant appearance in text: KIT: D792E
PubMed Link: 22927810
Variant Present in the following documents:
  • Main text
  • pcbi.1002661.pdf
View BVdb publication page