Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S341fs
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CXCR4

NM_003467.3:p.S341fs

Associated Papers

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4.

Luo J et al.

The Journal of Biological Chemistry, 2022

34973340 (PubMed )
Supplement: mmc1.pdf

Bone marrow involvement and subclonal diversity impairs detection of mutated CXCR4 by diagnostic next-generation sequencing in Waldenström macroglobulinaemia.

Gustine JN et al.

British Journal of Haematology, 2021

Molecular and genetic biomarkers implemented from next-generation sequencing provide treatment insights in clinical practice for Waldenström macroglobulinemia.

Wang Y et al.

Neoplasia (new York, N.y.), 2021

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.

Milanesi S et al.

International Journal of Molecular Sciences, 2020

New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.

Scala S et al.

Vaccines, 2020

WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).

Liu Q et al.

Journal of Clinical Immunology, 2016

Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia.

Poulain S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Clonal architecture of CXCR4 WHIM-like mutations in Waldenström Macroglobulinaemia.

Xu L et al.

British Journal of Haematology, 2016

MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity.

Schmidt J et al.

British Journal of Haematology, 2015

Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.

Treon SP et al.

Blood, 2014

WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.

Liu Q et al.

Blood, 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."