Varaico: Literature-Extracted Genetic Variants

Gene:CXCR2
Variant:p.R289C
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CXCR2

NM_001557.4:p.R289C

Associated Papers

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9.

Hinke DM et al.

Haematologica, 2026

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

Klimiankou M et al.

Haematologica, 2024

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity.

Marin-Esteban V et al.

Haematologica, 2022

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Song L et al.

Molecular Therapy. Nucleic Acids, 2021

34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC

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

Unknown Author

Nature Genetics, 2016

27399967 (PubMed )
Supplement: NIHMS793138-supplement-Suppl_tables.xlsx › S9b

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."