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Gene FGFR3
Variant M528I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 M528I lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). M528I results in both increased phosphorylation of Erk, Stat1, and Stat3, and autophosphorylation of Fgfr3 in culture (PMID: 25777271).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 M528I

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Transcript NM_000142.5
gDNA chr4:g.1805608G>C
cDNA c.1584G>C
Protein p.M528I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513420.2 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_000142 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713871 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805602G>C c.1584G>C p.M528I 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 )
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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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References