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Gene | FGFR2 |
Variant | I548V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 I548V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I548V confers a gain of function on the Fgfr2 protein, as demonstrated by increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in cell culture (PMID: 23908597). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 I548V |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498525T>C |
cDNA | c.1642A>G |
Protein | p.I548V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.4 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498525T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498525T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498525T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498528T>C | c.1642A>G | p.I548V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 I548V | Advanced Solid Tumor | decreased response | Dovitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 I548V demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). | 23908597 |
FGFR2 I548V | Advanced Solid Tumor | decreased response | PD173074 | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 I548V demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). | 23908597 |
FGFR2 I548V | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 I548V (PMID: 23908597). | 23908597 |