Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.R335W
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ITK

NM_005546.4:p.R335W

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Di Filippo M et al.

International Journal of Molecular Sciences, 2024

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Role of the IL-2 inducible tyrosine kinase ITK and its inhibitors in disease pathogenesis.

Lechner KS et al.

Journal of Molecular Medicine (berlin, Germany), 2020

Analysis of the FLVR motif of SHIP1 and its importance for the protein stability of SH2 containing signaling proteins.

Ehm PAH et al.

Cellular Signalling, 2019

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.

Fang M et al.

Journal of Clinical Immunology, 2019

Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight?

Ghosh S et al.

Frontiers in Immunology, 2018

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.

Ghosh S et al.

Journal of Clinical Immunology, 2014

Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.

Linka RM et al.

Leukemia, 2012

Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Zhizhuo H et al.

Pediatric Blood & Cancer, 2012

TEC family kinases in health and disease--loss-of-function of BTK and ITK and the gain-of-function fusions ITK-SYK and BTK-SYK.

Hussain A et al.

The Febs Journal, 2011

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

Stepensky P et al.

Haematologica, 2011

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.

Huck K et al.

The Journal of Clinical Investigation, 2009

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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."