Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.Q252H
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KIT

NM_000222.3:p.Q252H

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense

Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Chen Q et al.

Oncotargets and Therapy, 2018

COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer.

Forbes SA et al.

Current Protocols in Human Genetics, 2016

Imatinib mesylate.

Waller CF

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2014

BCR-ABL isoforms associated with intrinsic or acquired resistance to imatinib: more heterogeneous than just ABL kinase domain point mutations?

Gruber FX et al.

Medical Oncology (northwood, London, England), 2012

Conformational control inhibition of the BCR-ABL1 tyrosine kinase, including the gatekeeper T315I mutant, by the switch-control inhibitor DCC-2036.

Chan WW et al.

Cancer Cell, 2011

Structural mechanism of the Pan-BCR-ABL inhibitor ponatinib (AP24534): lessons for overcoming kinase inhibitor resistance.

Zhou T et al.

Chemical Biology & Drug Design, 2011

Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays.

Yin CC et al.

Cancer Science, 2010

Imatinib mesylate.

Waller CF

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2010

Bcr-Abl resistance screening predicts a limited spectrum of point mutations to be associated with clinical resistance to the Abl kinase inhibitor nilotinib (AMN107).

von Bubnoff N et al.

Blood, 2006

Comparison of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistant to imatinib.

Kang HY et al.

Haematologica, 2006

BCR-ABL kinase domain mutations in chronic myeloid leukemia: not quite enough to cause resistance to imatinib therapy?

Lange T et al.

Cell Cycle (georgetown, Tex.), 2005

Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL.

Azam M et al.

Cell, 2003

Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia.

Shah NP et al.

Cancer Cell, 2002

Imatinib Mesylate.

Waller CF

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."