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Gene FGFR3
Variant V555M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 V555M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555M results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226), and is associated with resistance to Fgfr inhibitors in culture (PMID: 28034880).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 V555M

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Transcript NM_000142.5
gDNA chr4:g.1805767G>A
cDNA c.1663G>A
Protein p.V555M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713871 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38

Filtering

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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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 V555M gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 V555M FGFR3 L608V
FGFR3 S249C FGFR3 V555M