Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D327N
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KIT

NM_000222.3:p.D327N

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

KIT mutations in mast cell tumours from cheetahs (Acinonyx jubatus) and domestic cats (Felis catus).

Tamlin VS et al.

Veterinary and Comparative Oncology, 2021

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

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

Haenisch B et al.

Immunology, 2012

Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder.

Molderings GJ et al.

Scandinavian Journal of Gastroenterology, 2007

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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."