Varaico: Literature-Extracted Genetic Variants

Gene:ITK
Variant:p.R29H
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ITK

NM_005546.4:p.R29H

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

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

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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."