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Gene | FGFR2 |
Variant | R399Q |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 R399Q lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). R399Q results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 R399Q |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515208C>T |
cDNA | c.1196G>A |
Protein | p.R399Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.1 | chr10:g.121515208C>T | c.1196G>A | p.R399Q | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515208C>T | c.1196G>A | p.R399Q | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121515208C>T | c.1196G>A | p.R399Q | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515208C>T | c.1196G>A | p.R399Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 R399Q | Advanced Solid Tumor | predicted - sensitive | E7090 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R399Q were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |