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| Gene | FGFR2 |
| Variant | N550T |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 N550T (corresponds to N549T in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550T results in growth factor-independent growth in a high-throughput cell culture assay (PMID: 41361008), 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 N550T |
| Transcript | NM_022970.4 |
| gDNA | chr10:g.121498521T>G |
| cDNA | c.1649A>C |
| Protein | p.N550T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144919 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144919.1 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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