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| Gene | FGFR1 |
| Variant | V561M |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR1 V561M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V561M results in increased Fgfr1 autophosphorylation (PMID: 25686244), increased Stat3 phosphorylation and STAT3-dependent gene expression, elevated expression of mesenchymal genes, and increased migration (PMID: 30257990), cell proliferation, and anchorage-independent growth in culture (PMID: 30257990, PMID: 40526877), and has been shown to be associated with resistance to tyrosine kinase inhibitors (PMID: 25686244, PMID: 40526877, PMID: 28646488), |
| Associated Drug Resistance | Y |
| Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 V561M |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38416043C>T |
| cDNA | c.1681G>A |
| Protein | p.V561M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716304 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| NM_023110 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_017013221 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| XM_006716303 | chr8:g.38416043C>T | c.1681G>A | p.V561M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR1 V561M | gain of function | FGFR Inhibitor (Pan) FGFR1 Inhibitor |