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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 |
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 |
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 |