Gene Variant Detail

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Gene FGFR3
Variant D788N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 D788N (corresponds to D785N in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D788N 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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Transcript NM_001163213
gDNA chr4:g.1807197G>A
cDNA c.2362G>A
Protein p.D788N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513420 chr4:g.1807194G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
XM_011513422 chr4:g.1807197G>A c.2362G>A p.D788N RefSeq GRCh38/hg38
NM_001163213 chr4:g.1807197G>A c.2362G>A p.D788N 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"

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 D788N unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 D788N 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 D788N in culture, however, cells expressing FGFR3 D788N did not demonstrate increased sensitivity to BGJ398 compared to cells expressing wild-type FGFR3 (PMID: 27053219). 27053219