Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.R49H
Back to variants list

KIT

NM_000222.3:p.R49H

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

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Liu T et al.

Frontiers in Oncology, 2021

34094900 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S6

SF3B1, NRAS, KIT, and BRAF Mutation; CD117 and cMYC Expression; and Tumoral Pigmentation in Sinonasal Melanomas: An Analysis With Newly Found Molecular Alterations and Some Population-Based Molecular Differences.

Wroblewska JP et al.

The American Journal of Surgical Pathology, 2019

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 10

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

Amit M et al.

British Journal of Cancer, 2017

Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Dallol A et al.

Journal of Translational Medicine, 2016

Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Han SW et al.

Plos One, 2013

23700467 (PubMed )
Supplement: pone.0064271.s004.xlsx › Sheet1
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."