KIT c.1475A>G ;(p.K492R)

Variant ID: 4-55592151-A-G

NM_000222.2(KIT):c.1475A>G;(p.K492R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Primary mucosal melanomas of the head and neck are characterised by overexpression of the DNA mutating enzyme APOBEC3B.

Histopathology
Argyris, Prokopios P PP; Naumann, Jordan J; Jarvis, Matthew C MC; Wilkinson, Peter E PE; Ho, Dan P DP; Islam, Mohammed N MN; Bhattacharyya, Indraneel I; Gopalakrishnan, Rajaram R; Li, Faqian F; Koutlas, Ioannis G IG; Giubellino, Alessio A; Harris, Reuben S RS
Publication Date: 2022-11-23

Variant appearance in text: KIT: 1475A>G
PubMed Link: 36416305
Variant Present in the following documents:
  • Main text
  • HIS-82-608.pdf
View BVdb publication page



Analyses of molecular and histopathologic features and expression of PRAME by immunohistochemistry in mucosal melanomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Toyama, Aimi A; Siegel, Lianne L; Nelson, Andrew C AC; Najmuddin, Mufaddal M; Bu, Lihong L; LaRue, Rebecca R; Henzler, Christine C; Caicedo-Granados, Emiro E; Giubellino, Alessio A; Li, Faqian F
Publication Date: 2019-12

Variant appearance in text: KIT: K492R
PubMed Link: 31375769
Variant Present in the following documents:
  • Main text
  • nihms-1532686.pdf
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: K492R
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
View BVdb publication page