Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.L14Q
Back to variants list

KIT

NM_000222.3:p.L14Q

Associated Papers

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Pseudoendocrine sarcoma: a rare new entity with unique radiologic and pathologic/molecular characteristics.

Corey Z et al.

Skeletal Radiology, 2025

Pharmacogenomic profiling of intra-tumor heterogeneity using a large organoid biobank of liver cancer.

Yang H et al.

Cancer Cell, 2024

Lack of Prognostic Value of CTNNB1 Mutation Profile in Desmoid-Type Fibromatosis.

Penel N et al.

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

Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine.

Gardrat S et al.

Cancers, 2021

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

Nuclear β-catenin localization and mutation of the CTNNB1 gene: a context-dependent association.

Kim G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

β-Catenin in desmoid-type fibromatosis: deep insights into the role of T41A and S45F mutations on protein structure and gene expression.

Colombo C et al.

Molecular Oncology, 2017

28627792 (PubMed )
Supplement: MOL2-11-1495-s003.docx

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

Pancreatic desmoid-type fibromatosis with beta-catenin gene mutation-Report of a case and review of the literature.

Tsukamoto Y et al.

Pathology, Research and Practice, 2016

β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis.

Huss S et al.

Histopathology, 2013

Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis.

Signoroni S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."