Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R399H
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FGFR3

NM_000142.5:p.R399H

Associated Papers

FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.

Niederkorn M et al.

The Journal of Clinical Investigation, 2026

41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.

Salazar R et al.

Genome Research, 2022

Somatic Mutation Profiling in Premalignant Lesions of Vulvar Squamous Cell Carcinoma.

Zięba S et al.

International Journal of Molecular Sciences, 2020

32664330 (PubMed )
Supplement: ijms-21-04880-s001.zip › Table_S1_corrected.xlsx › Arkusz1

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Olkinuora A et al.

Cancers, 2020

32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2

Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Liao Y et al.

Cancer Medicine, 2019

31369215 (PubMed )
Supplement: CAM4-8-5673-s008.xlsx › Supplementary_Table_S5

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_Kinase_

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Melanoma

Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions.

Clynick B et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Next-generation sequencing analysis of lung and colon carcinomas reveals a variety of genetic alterations.

Chevrier S et al.

International Journal of Oncology, 2014

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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."