Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.D128Y
Back to variants list

ITGB2

NM_000211.5:p.D128Y

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

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

Erdem S et al.

Clinical Immunology (orlando, Fla.), 2023

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

Yaz I et al.

Clinical and Experimental Immunology, 2021

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Harvey S et al.

Irish Medical Journal, 2020

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Nawaz Tipu H et al.

Immunobiology, 2020

Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Kambli PM et al.

Frontiers in Immunology, 2020

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.

Hu J et al.

Archives of Iranian Medicine, 2018

Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation.

Teimourian S et al.

Immunology Letters, 2017

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

Levy-Mendelovich S et al.

Immunologic Research, 2016

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

Yassaee VR et al.

Human Immunology, 2016

Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran.

Taghizade Mortezaee F et al.

Archives of Iranian Medicine, 2015

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.

Madkaikar M et al.

Blood Cells, Molecules & Diseases, 2015

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

Parvaneh N et al.

Journal of Clinical Immunology, 2010

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."