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|Gene Variant Descriptions||FGFR3 D764H (corresponds to D762H in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D764H has not been biochemically characterized, and is conflicting as it results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Protein Effect||Treatment Approaches|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|FGFR3 D764H||head and neck squamous cell carcinoma||no benefit||BGJ398||Preclinical - Cell culture||Actionable||In a preclinical study, BGJ398 inhibited proliferation of a head and neck squamous cell carcinoma cell line expressing FGFR3 D764H in culture, however, cells expressing FGFR3 D764H did not demonstrate increased sensitivity to BGJ398 compared to cells expressing wild-type FGFR3 (PMID: 27053219).||27053219|