KIT c.2425T>C ;(p.C809R)

Variant ID: 4-55599299-T-C

NM_000222.2(KIT):c.2425T>C;(p.C809R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Inhibition of FGF2-Mediated Signaling in GIST-Promising Approach for Overcoming Resistance to Imatinib.

Cancers
Boichuk, Sergei S; Galembikova, Aigul A; Mikheeva, Ekaterina E; Bikinieva, Firuza F; Aukhadieva, Aida A; Dunaev, Pavel P; Khalikov, Dinar D; Petrov, Semen S; Kurtasanov, Refat R; Valeeva, Elena E; Kireev, Igor I; Dugina, Vera V; Lushnikova, Anna A; Novikova, Maria M; Kopnin, Pavel P
Publication Date: 2020-06-24

Variant appearance in text: KIT: C809R
PubMed Link: 32599808
Variant Present in the following documents:
  • cancers-12-01674-s001.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: C809R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12

Variant appearance in text: KIT: C809R
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Combining Mutational Signatures, Clonal Fitness, and Drug Affinity to Define Drug-Specific Resistance Mutations in Cancer.

Cell Chemical Biology
Kaserer, Teresa T; Blagg, Julian J
Publication Date: 2018-11-15

Variant appearance in text: KIT: C809R
PubMed Link: 30146241
Variant Present in the following documents:
  • Main text
  • mmc9.pdf
  • main.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: C809R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: KIT: C809R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page