Gene Variant Detail

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Gene FGFR3
Variant D764H
Impact List missense
Protein Effect unknown
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

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No Variant Reference Transcript is Available.
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001163213 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
XM_011513422 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 D764H unknown
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