Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D60N
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KIT

NM_000222.3:p.D60N

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

BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.

Colombino M et al.

Journal of Clinical Medicine, 2019

31581559 (PubMed )
Supplement: jcm-08-01577-s001.pdf

Mutation in the first Ig-like domain of Kit leads to JAK2 activation and myeloproliferation in mice.

Huang Z et al.

The American Journal of Pathology, 2014

Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.

Guo XL et al.

Pigment Cell & Melanoma Research, 2010

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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."