Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.T714M
Back to variants list

JAK3

NM_000215.4:p.T714M

Associated Papers

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial.

Ascierto PA et al.

Nature Communications, 2024

38167503 (PubMed )
Supplement: 41467_2023_44475_MOESM1_ESM.pdf

Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.

Wang X et al.

Human Mutation, 2023

Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Ma K et al.

Cancers, 2022

36291846 (PubMed )
Supplement: cancers-14-05062-s001.zip › Supplementary_Tables.xlsx › Table_S3

Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.

Chew NJ et al.

Breast Cancer Research : Bcr, 2021

34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing.

Chien YC et al.

Diagnostics (basel, Switzerland), 2020

Graft versus host disease and microchimerism in a JAK3 deficient patient.

Shahbazi Z et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.

Tezcan I et al.

The Journal of Pediatrics, 2005

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."