Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
G | 0.740 | GeneticVariation | CLINVAR | Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. | 10471491 | 1999 |
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G | 0.710 | GeneticVariation | CLINVAR | Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. | 10471491 | 1999 |
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G | 0.710 | GeneticVariation | CLINVAR | Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. | 11429702 | 2001 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas. | 15880580 | 2005 |
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T | 0.700 | GeneticVariation | CLINVAR | Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. | 10471491 | 1999 |
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T | 0.700 | GeneticVariation | CLINVAR | Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. | 12009017 | 2002 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. | 11429702 | 2001 |
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|
A | 0.700 | GeneticVariation | CLINVAR | The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues. | 19165726 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. | 9857065 | 1998 |