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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_011513420.1 chr4:g.1805602G>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_011513420.2 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
XM_006713873.2 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713871 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
XM_047449823.1 chr4:g.1805608G>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_001163213.2 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_047449824.1 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
XM_006713871.2 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
XM_006713871.1 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_001163213.1 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

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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 S249C FGFR3 M528I FGFR3 V553M transitional cell carcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-201), FGFR3 V553M and M528I were identified in post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 S249C who previously achieved a partial response on Pemazyre (pemigatinib) treatment (PMID: 37956738; NCT02872714). 37956738