Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.R815K
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KIT

NM_000222.3:p.R815K

Associated Papers

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

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

Human erythroblasts with c-Kit activating mutations have reduced cell culture costs and remain capable of terminal maturation.

Couch T et al.

Experimental Hematology, 2019

Anaphylaxis as a clinical manifestation of clonal mast cell disorders.

Matito A et al.

Current Allergy and Asthma Reports, 2014

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

Verstovsek S

European Journal of Haematology, 2013

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

Haenisch B et al.

Immunology, 2012

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

One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes.

Sotlar K et al.

The American Journal of Pathology, 2003

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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."