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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 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
Category Variants Paths

FGFR3 mutant FGFR3 D764H

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Transcript NM_001163213.2
gDNA chr4:g.1807125G>C
cDNA c.2290G>C
Protein p.D764H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422.1 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
NM_001163213.1 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
NM_001163213.2 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
NM_001163213 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1807125G>C c.2290G>C p.D764H RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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.
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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 Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) 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 Truseltiq (infigratinib) compared to cells expressing wild-type FGFR3 (PMID: 27053219). 27053219