KIT c.2437C>A ;(p.L813I)

Variant ID: 4-55599311-C-A

NM_000222.2(KIT):c.2437C>A;(p.L813I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20

Variant appearance in text: KIT: L813I
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
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: L813I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene
Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB
Publication Date: 2019-09

Variant appearance in text: KIT: L813I
PubMed Link: 31337866
Variant Present in the following documents:
  • 41388_2019_895_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page