KIT c.1925A>G ;(p.K642R)

Variant ID: 4-55594222-A-G

NM_000222.2(KIT):c.1925A>G;(p.K642R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: KIT: K642R
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.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: K642R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: K642R
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



Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience.

South Asian Journal Of Cancer
Pai, Trupti T; Bal, Munita M; Shetty, Omshree O; Gurav, Mamta M; Ostwal, Vikas V; Ramaswamy, Anant A; Ramadwar, Mukta M; Desai, Sangeeta S
Publication Date: 2017

Variant appearance in text: KIT: 1925A>G
PubMed Link: 28975118
Variant Present in the following documents:
  • Main text
  • SAJC-6-113.pdf
View BVdb publication page



Analysis of mutation of the c-Kit gene and PDGFRA in gastrointestinal stromal tumors.

Experimental And Therapeutic Medicine
Xu, Chun-Wei CW; Lin, Shan S; Wang, Wu-Long WL; Gao, Wen-Bin WB; Lv, Jin-Yan JY; Gao, Jing-Shan JS; Zhang, Li-Ying LY; Li, Yang Y; Wang, Lin L; Zhang, Yu-Ping YP; Tian, Yu-Wang YW
Publication Date: 2015-09

Variant appearance in text: KIT: K642R
PubMed Link: 26622437
Variant Present in the following documents:
  • Main text
View BVdb publication page