KIT c.1692T>A ;(p.N564K)

Variant ID: 4-55593626-T-A

NM_000222.2(KIT):c.1692T>A;(p.N564K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


c-Kit M541L variant is related to ineffective hemopoiesis predisposing to clonal evolution in 3D in vitro biomimetic co-culture model of bone marrow niche.

Heliyon
Manzo, Paola P; Scala, Pasqualina P; Giudice, Valentina V; Gorrese, Marisa M; Bertolini, Angela A; Morini, Denise D; D'Alto, Francesca F; Pepe, Rita R; Pedicini, Antonio A; Izzo, Barbara B; Verdesca, Francesco F; Langella, Maddalena M; Serio, Bianca B; Della Porta, Giovanna G; Selleri, Carmine C
Publication Date: 2022-12

Variant appearance in text: CD117: N564K
PubMed Link: 36478848
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



KIT Mutations Correlate with Higher Galectin Levels and Brain Metastasis in Breast and Non-Small Cell Lung Cancer.

Cancers
Funkhouser, Avery T AT; Strigenz, Alexander M AM; Blair, Bailey B BB; Miller, Andrew P AP; Shealy, Jonah C JC; Ewing, Joseph A JA; Martin, Julie C JC; Funk, Christopher R CR; Edenfield, William J WJ; Blenda, Anna V AV
Publication Date: 2022-06-03

Variant appearance in text: CD117: N564K
PubMed Link: 35681762
Variant Present in the following documents:
  • cancers-14-02781.pdf
View BVdb publication page



Technical Insights into Highly Sensitive Isolation and Molecular Characterization of Fixed and Live Circulating Tumor Cells for Early Detection of Tumor Invasion.

Plos One
Laget, Sophie S; Broncy, Lucile L; Hormigos, Katia K; Dhingra, Dalia M DM; BenMohamed, Fatima F; Capiod, Thierry T; Osteras, Magne M; Farinelli, Laurent L; Jackson, Stephen S; Paterlini-Bréchot, Patrizia P
Publication Date: 2017

Variant appearance in text: CD117: N564K
PubMed Link: 28060956
Variant Present in the following documents:
  • pone.0169427.pdf
View BVdb publication page



Monoclonal gammopathy-associated pure red cell aplasia.

British Journal Of Haematology
Korde, Neha N; Zhang, Yong Y; Loeliger, Kelsey K; Poon, Andrea A; Simakova, Olga O; Zingone, Adriana A; Costello, Rene R; Childs, Richard R; Noel, Pierre P; Silver, Samuel S; Kwok, Mary M; Mo, Clifton C; Young, Neal N; Landgren, Ola O; Sloand, Elaine E; Maric, Irina I
Publication Date: 2016-06

Variant appearance in text: KIT: N564K
PubMed Link: 26999424
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of KIT exon 10 M541L allelic variant on the response to imatinib in aggressive fibromatosis: analysis of the desminib series by competitive allele specific Taqman PCR technology.

Bmc Cancer
Dufresne, Armelle A; Alberti, Laurent L; Brahmi, Mehdi M; Kabani, Sarah S; Philippon, Héloïse H; Pérol, David D; Blay, Jean Yves JY
Publication Date: 2014-08-29

Variant appearance in text: CD117: N564K
PubMed Link: 25174682
Variant Present in the following documents:
  • 12885_2013_Article_4816.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: N564K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis.

Sarcoma
Kurtz, Jean-Emmanuel JE; Asmane, Irène I; Voegeli, Anne-Claire AC; Neuville, Agnès A; Dufresne, Armelle A; Litique, Valère V; Chevreau, Christine C; Bergerat, Jean-Pierre JP
Publication Date: 2010

Variant appearance in text: CD117: N564K
PubMed Link: 20339585
Variant Present in the following documents:
  • SRCM2010-458156.pdf
View BVdb publication page