Varaico: Literature-Extracted Genetic Variants

Gene:CXCR2
Variant:p.R248Q
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CXCR2

NM_001557.4:p.R248Q

Associated Papers

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s014.pdf

Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing.

Klimiankou M et al.

Haematologica, 2024

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia

In The Blood: Connecting Variant to Function In Human Hematopoiesis.

Nandakumar SK et al.

Trends in Genetics : Tig, 2020

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Unknown Author

Nature Genetics, 2016

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Auer PL et al.

Nature Genetics, 2014

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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."