KIT c.1649_1663del ;(p.K550_V555delinsI)

Variant ID: 4-55593583-AAACCCATGTATGAAG-A

NM_000222.2(KIT):c.1649_1663del;(p.K550_V555delinsI)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Oncotarget
Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL
Publication Date: 2018-03-02

Variant appearance in text: KIT: 1649_1663del
PubMed Link: 29568401
Variant Present in the following documents:
  • Main text
  • oncotarget-09-13870.pdf
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: 1649_1663delAACCCATGTATGAAG
PubMed Link: 28975118
Variant Present in the following documents:
  • SAJC-6-113.pdf
View BVdb publication page