FGFR3 R252Q
Gene Variant Detail

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Gene FGFR3
Variant R252Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 R252Q lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R252Q does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 R252Q

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Transcript NM_000142.5
gDNA chr4:g.1801850G>A
cDNA c.755G>A
Protein p.R252Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354810.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801850G>A c.755G>A p.R252Q RefSeq GRCh38/hg38

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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 )
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  • 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