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Gene FGFR2
Variant M538I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 M538I (corresponds to M537I in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M538I confers a gain of function to the Fgfr2 protein as demonstrated by increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in cell culture (PMID: 23908597), and has been associated with decreased sensitivity to some FGFR inhibitors (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 M538I

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Transcript NM_000141.5
gDNA chr10:g.121498553C>G
cDNA c.1614G>C
Protein p.M538I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710.5 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_000141 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710.4 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38

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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
FGFR2 fusion FGFR2 M538I intrahepatic cholangiocarcinoma decreased response Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 M538I had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 M538I intrahepatic cholangiocarcinoma decreased response Debio 1347 Preclinical - Cell culture Actionable In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 M538I had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 M538I intrahepatic cholangiocarcinoma sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 M538I were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). 31109923