Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.L329fs
Back to variants list

CXCR4

NM_003467.3:p.L329fs

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

The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.

Wang L et al.

Bmc Molecular and Cell Biology, 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: from Pathogenesis Towards Personalized Medicine and Cure.

Heusinkveld LE et al.

Journal of Clinical Immunology, 2019

WHIM syndrome: Immunopathogenesis, treatment and cure strategies.

McDermott DH et al.

Immunological Reviews, 2019

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.

Badolato R et al.

Blood, 2017

Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.

Heusinkveld LE et al.

Expert Opinion on Orphan Drugs, 2017

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

Liu Q et al.

Journal of Clinical Immunology, 2016

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

Xu L et al.

British Journal of Haematology, 2016

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

Treon SP et al.

Blood, 2014

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."