Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.C36S
Back to variants list

ITGB2

NM_000211.5:p.C36S

Associated Papers

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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

Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2 (ITGB2) gene.

Bauer TR et al.

Veterinary Clinical Pathology, 2017

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.

Bauer TR et al.

Ilar Journal, 2009

Frequency of the canine leucocyte adhesion deficiency (CLAD) mutation among Irish red setters in Germany.

Pfeiffer I et al.

Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie, 2005

The integrin alpha L beta 2 hybrid domain serves as a link for the propagation of activation signal from its stalk regions to the I-like domain.

Tng E et al.

The Journal of Biological Chemistry, 2004

The genetic immunodeficiency disease, leukocyte adhesion deficiency, in humans, dogs, cattle, and mice.

Gu YC et al.

Comparative Medicine, 2004

Leukocyte adhesion deficiency in children and Irish setter dogs.

Bauer TR et al.

Pediatric Research, 2004

The frequency of the canine leukocyte adhesion deficiency (CLAD) allele within the Irish Setter population of Australia.

Jobling AI et al.

Australian Veterinary Journal, 2003

Canine leucocyte adhesion deficiency in Irish red and white setters.

Debenham SL et al.

The Journal of Small Animal Practice, 2002

A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency.

Kijas JM et al.

Genomics, 1999

Canine leukocyte adhesion deficiency: presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters.

Foureman P et al.

Journal of Veterinary Internal Medicine, 0

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."