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KIT c.740A>G ;(p.K247R)
Variant ID: 4-55565916-A-G
NM_000222.2(
KIT
):c.740A>G;(p.K247R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: K247R
PubMed Link:
35229492
Variant Present in the following documents:
PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Oncotarget
Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S
Publication Date: 2016-04-19
Variant appearance in text: KIT: K247R
PubMed Link:
26933808
Variant Present in the following documents:
oncotarget-07-21556-s001.pdf
View BVdb publication page
The energy landscape analysis of cancer mutations in protein kinases.
Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011
Variant appearance in text: KIT: K247R
PubMed Link:
21998754
Variant Present in the following documents:
View BVdb publication page
The pharmacogenetics of imanitib.
Genome Medicine
Dulucq, Stéphanie S; Krajinovic, Maja M
Publication Date: 2010-11-30
Variant appearance in text: KIT: Lys247Arg
PubMed Link:
21122163
Variant Present in the following documents:
Main text
gm206.pdf
View BVdb publication page