Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FGFR2 |
| Variant | R251Q |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | FGFR2 R251Q lies within the region linking Ig-like domains II and III of the Fgfr2 protein (PMID: 11121055). R251Q results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but confers a loss of function on the Fgfr2 protein as demonstrated by loss of ligand binding and diminished Mapk activation upon Fgf2 stimulation in cell culture (PMID: 19147536). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 R251Q FGFR2 mutant FGFR2 inact mut FGFR2 R251Q |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121520166C>T |
| cDNA | c.752G>A |
| Protein | p.R251Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320658.1 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144917 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121520166C>T | c.752G>A | p.R251Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | E7090 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR2 R251Q | Advanced Solid Tumor | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 R251Q were sensitive to treatment with Fexagratinib (AZD4547) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |