BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
Disease: Waldenstrom Macroglobulinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs574384780
rs574384780
Entrez Id: 613;27156
Gene Symbol: BCR;RSPH14
BCR;RSPH14
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia 		0.020 GeneticVariation BEFREE Whole-genome sequencing has revealed MYD88 L265P and CXCR4 mutations (CXCR4(mut)) as the most prevalent somatic mutations in Waldenström macroglobulinemia. 26490317 2016
dbSNP: rs574384780
rs574384780
Entrez Id: 613;27156
Gene Symbol: BCR;RSPH14
BCR;RSPH14
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia 		0.020 GeneticVariation BEFREE Beyond the discovery of the myeloid differentiation primary response gene 88 (MYD88) L265P mutation, which will help greatly in the differential characterization of WM from other B-cell low-grade lymphomas, several other mechanisms of gene deregulation were identified and mapped that recurrently pointed out nuclear factor-kappa B (NF-κB), breakpoint cluster region (BCR), and Toll-like receptor (TLR) signaling pathways as potential targets for a better understanding of the physiopathology of WM and for future drug development. 23473949 2013