Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.V718L
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JAK3

NM_000215.4:p.V718L

Associated Papers

Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.

Pinamonti M et al.

Journal of Clinical Medicine, 2025

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Ettaki I et al.

Hgg Advances, 2025

39797402 (PubMed )
Supplement: mmc2.xlsx › Table_S1

A clinically compatible in vitro drug-screening platform identifies therapeutic vulnerabilities in primary cultures of brain metastases.

Jeising S et al.

Journal of Neuro-oncology, 2024

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.

Tsilifis C et al.

Journal of Clinical Immunology, 2024

38598033 (PubMed )
Supplement: 10875_2024_1699_MOESM1_ESM.pdf

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

Clinical and molecular characteristics of unicentric mediastinal Castleman disease.

Legras A et al.

Journal of Thoracic Disease, 2018

Comparative molecular profiling of HPV-induced squamous cell carcinomas.

Koncar RF et al.

Cancer Medicine, 2017

28556593 (PubMed )
Supplement: CAM4-6-1673-s004.xlsx › NGS

The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.

Basturk O et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

de Leng WW et al.

Plos One, 2016

26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf
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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."