Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.A533D
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KIT

NM_000222.3:p.A533D

Associated Papers

Well-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.

Schornack BJ et al.

The Journal of Allergy and Clinical Immunology, 2025

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.

Rydz A et al.

International Journal of Molecular Sciences, 2024

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.

Pardanani A

American Journal of Hematology, 2023

Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

Shi Q et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35294533 (PubMed )
Supplement: ccr-21-3344_supplementary_data_suppsd1.xlsx › Table_S6

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

Katagiri S et al.

International Journal of Molecular Sciences, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Monaldi C et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2021

Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

Martelli M et al.

International Journal of Molecular Sciences, 2020

The Role of KIT Mutations in Anaphylaxis.

Coulson E et al.

Current Allergy and Asthma Reports, 2019

Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Saglam O et al.

Melanoma Research, 2018

The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders.

Roskoski R

Pharmacological Research, 2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

Conde-Fernandes I et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2017

Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features.

Molderings GJ

Translational Research : the Journal of Laboratory and Clinical Medicine, 2016

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Ke H et al.

Cell & Bioscience, 2016

KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.

Brahmi M et al.

Bmc Cancer, 2015

Gene of the month: KIT.

Roberts R et al.

Journal of Clinical Pathology, 2015

Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Chatterjee A et al.

Oncotarget, 2015

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Arock M et al.

Leukemia, 2015

Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

Chan EC et al.

The Journal of Allergy and Clinical Immunology, 2014

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

Wang HJ et al.

Clinical and Experimental Dermatology, 2014

The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis.

Erben P et al.

Annals of Hematology, 2014

Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.

Verstovsek S

European Journal of Haematology, 2013

Somatic D816V KIT mutation in a case of adult-onset familial mastocytosis.

Zanotti R et al.

The Journal of Allergy and Clinical Immunology, 2013

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B et al.

Immunology, 2012

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

Kurtz JE et al.

Sarcoma, 2010

Systemic mastocytosis: classification, pathogenesis, diagnosis, and treatment.

Bunimovich O et al.

Cutis, 2009

Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT.

Foster R et al.

The British Journal of Dermatology, 2008

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

Orfao A et al.

British Journal of Haematology, 2007

Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

Corless CL et al.

The Journal of Molecular Diagnostics : Jmd, 2006

A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy.

Zhang LY et al.

Leukemia Research, 2006

Pathogenesis, clinical features, and treatment advances in mastocytosis.

Pardanani A et al.

Best Practice & Research. Clinical Haematology, 2006

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

Tang X et al.

Journal of Medical Genetics, 2004

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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."