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Gene FGFR3
Variant Y373C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 Y373C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373C confers a gain of function to the Fgfr3 protein resulting in increased proliferation relative to wild-type Fgfr3 in a competition assay (PMID: 34272467), constitutive activation, downstream signaling (PMID: 11429702, PMID: 11157491), and transformation of cultured cells (PMID: 11429702, PMID: 11157491, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 Y373C

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Transcript NM_000142.5
gDNA chr4:g.1804372A>G
cDNA c.1118A>G
Protein p.Y373C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 Y373C gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 Y373C FGFR3 over exp
FGFR3 rearrange FGFR3 Y373C
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V
FGFR3 Y373C FGFR3 N540K