Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.N119S
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CXCR4

NM_003467.3:p.N119S

Associated Papers

A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.

Zmajkovicova K et al.

Blood Advances, 2024

38768429 (PubMed )
Supplement: BLOODA_ADV-2023-011875-mmc1.pdf

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Analysis by substituted cysteine scanning mutagenesis of the fourth transmembrane domain of the CXCR4 receptor in its inactive and active state.

Boulais PE et al.

Biochemical Pharmacology, 2013

Function, diversity and therapeutic potential of the N-terminal domain of human chemokine receptors.

Szpakowska M et al.

Biochemical Pharmacology, 2012

Third extracellular loop (EC3)-N terminus interaction is important for seven-transmembrane domain receptor function: implications for an activation microswitch region.

Rana S et al.

The Journal of Biological Chemistry, 2010

A point mutation that confers constitutive activity to CXCR4 reveals that T140 is an inverse agonist and that AMD3100 and ALX40-4C are weak partial agonists.

Zhang WB et al.

The Journal of Biological Chemistry, 2002

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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."