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Gene | FGFR2 |
Variant | S267P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 S267P lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S267P has been identified in sequencing studies (PMID: 11325814), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 S267P |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520119A>G |
cDNA | c.799T>C |
Protein | p.S267P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.3 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121520119A>G | c.799T>C | p.S267P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 S267P | Cancer of Unknown Primary | predicted - sensitive | Erdafitinib | Case Reports/Case Series | Actionable | In a clinical case study, Balversa (erdafitinib) treatment resulted in a partial response with a progression-free survival of 7 months and best objective response of -40% in a patient with cancer of unknown primary harboring FGFR2 S267P (PMID: 39226398). | 39226398 |