Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.R29C
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ITK

NM_005546.4:p.R29C

Associated Papers

Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.

Rafati M et al.

Transplantation and Cellular Therapy, 2024

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Ogishi M et al.

The Journal of Experimental Medicine, 2023

NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.

Bi X et al.

Journal of Hematology & Oncology, 2022

35902954 (PubMed )
Supplement: 13045_2022_1318_MOESM2_ESM.xlsx › Table_S6

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.

Zhang L et al.

Annals of Hematology, 2019

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

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

Linka RM et al.

Leukemia, 2012

A conserved motif in the ITK PH-domain is required for phosphoinositide binding and TCR signaling but dispensable for adaptor protein interactions.

Hirve N et al.

Plos One, 2012

The ITK-SYK fusion oncogene induces a T-cell lymphoproliferative disease in mice mimicking human disease.

Dierks C et al.

Cancer Research, 2010

20670954 (PubMed )
Supplement: 00085472can083719-sup-sfigs_1-16.pdf

The Tec family kinase Itk exists as a folded monomer in vivo.

Qi Q et al.

The Journal of Biological Chemistry, 2009

The lymphoma-associated fusion tyrosine kinase ITK-SYK requires pleckstrin homology domain-mediated membrane localization for activation and cellular transformation.

Rigby S et al.

The Journal of Biological Chemistry, 2009

Characterization of a novel interaction between transcription factor TFII-I and the inducible tyrosine kinase in T cells.

Sacristán C et al.

European Journal of Immunology, 2009

Tec kinase Itk forms membrane clusters specifically in the vicinity of recruiting receptors.

Qi Q et al.

The Journal of Biological Chemistry, 2006

Inducible T cell tyrosine kinase (ITK): structural requirements and actin polymerization.

Tsoukas CD et al.

Advances in Experimental Medicine and Biology, 2006

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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."