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Gene FGFR3
Variant Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 Y375C (corresponds to Y373C in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y375C confers a gain of function to the Fgfr3 protein as demonstrated by ligand-independent constitutive phosphorylation in vitro and transformation of cells in culture (PMID: 19749790).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 Y375C

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Transcript NM_001163213.2
gDNA chr4:g.1804372A>G
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713869 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38

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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0