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Gene FGFR3
Variant V553M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 V553M lies within the protein kinase domain (UniProt.org). V553M has been associated with FGFR inhibitor resistance (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 V553M

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Transcript NM_000142.5
gDNA chr4:g.1805761G>A
cDNA c.1657G>A
Protein p.V553M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805761G>A c.1657G>A p.V553M RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References