Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816N
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KIT

NM_000222.3:p.D816N

Associated Papers

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in KIT D816V-Negative Advanced Systemic Mastocytosis.

Naumann N et al.

Cancers, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

Rapid response to avapritinib of acute myeloid leukemia with t(8;21) and KIT mutation relapse post allo-HSCT.

Xue S et al.

Leukemia & Lymphoma, 2022

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

35229492 (PubMed )
Supplement: PCMR-35-369-s002.pdf

Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

Katagiri S et al.

International Journal of Molecular Sciences, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Tuberous sclerosis complex: a complex case.

Powell RM et al.

Cold Spring Harbor Molecular Case Studies, 2022

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

KIT and Melanoma: Biological Insights and Clinical Implications.

Pham DDM et al.

Yonsei Medical Journal, 2020

BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients.

Dika E et al.

American Journal of Clinical Pathology, 2020

Resistance to TRK inhibition mediated by convergent MAPK pathway activation.

Cocco E et al.

Nature Medicine, 2019

31406350 (PubMed )
Supplement: NIHMS1533563-supplement-1.xlsx › Patient_7

Simultaneous identification of clinically relevant single nucleotide variants, copy number alterations and gene fusions in solid tumors by targeted next-generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor.

Konstantinova AM et al.

Annals of Diagnostic Pathology, 2017

KIT mutations in primary mediastinal B-cell lymphoma.

Nagel PD et al.

Blood Cancer Journal, 2014

Hotspot mutations in KIT receptor differentially modulate its allosterically coupled conformational dynamics: impact on activation and drug sensitivity.

Chauvot de Beauchêne I et al.

Plos Computational Biology, 2014

Characterization of bone marrow mast cells in acute myeloid leukemia with t(8;21) (q22;q22); RUNX1-RUNX1T1.

Pullarkat ST et al.

Leukemia Research, 2013

KIT, NRAS, and BRAF mutations in nail apparatus melanoma.

Dika E et al.

Pigment Cell & Melanoma Research, 2013

Large-scale analysis of KIT aberrations in Chinese patients with melanoma.

Kong Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Sequence and structure signatures of cancer mutation hotspots in protein kinases.

Dixit A et al.

Plos One, 2009

Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.

Tang Z et al.

Oncogene, 2009

Recent advances in the understanding of mastocytosis: the role of KIT mutations.

Orfao A et al.

British Journal of Haematology, 2007

Sensitive detection of KIT D816V in patients with mastocytosis.

Tan A et al.

Clinical Chemistry, 2006

Molecular basis of the constitutive activity and STI571 resistance of Asp816Val mutant KIT receptor tyrosine kinase.

Foster R et al.

Journal of Molecular Graphics & Modelling, 2004

STAT3 activation is required for Asp(816) mutant c-Kit induced tumorigenicity.

Ning ZQ et al.

Oncogene, 2001

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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."