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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 and has been shown to be associated with resistance to tyrosine kinase inhibitors (PMID: 25686244, PMID: 15157880, PMID: 28646488), and leads to increased Stat3 phosphorylation and STAT3-dependent gene expression, elevated expression of mesenchymal genes, and increased cell proliferation, migration, and anchorage-independent growth in culture (PMID: 30257990).
Associated Drug Resistance Y
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 V561M

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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
NM_023110 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
XM_006716304.1 chr8:g.38416043C>T c.1681G>A p.V561M RefSeq GRCh38/hg38
XM_006716304 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_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
XM_017013221.1 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_006716303.4 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_023110.3 chr8:g.38416043C>T c.1681G>A p.V561M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 V561M Advanced Solid Tumor sensitive FIIN-1 Preclinical - Biochemical Actionable In a preclinical study, FIIN-1 inhibited Fgfr1 autophosphorylation in a human transformed embryonic kidney cell line harboring FGFR1 V561M mutation in culture (PMID: 20338520). 20338520
FGFR1 V561M Advanced Solid Tumor sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of transformed cells over expressing FGFR1 V561M in culture (PMID: 28978721). 28978721
FGFR1 V561M lung non-small cell carcinoma resistant AZD4547 Preclinical - Cell culture Actionable In a preclinical study, non-small cell lung cancer cells expressing FGFR1 V561M demonstrated resistance to AZD4547 in culture (PMID: 30257990). 30257990
FGFR1 V561M Advanced Solid Tumor predicted - resistant Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V561M demonstrated insensitivity to Balversa (erdafitinib) in culture (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor predicted - resistant Ponatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V561M demonstrated insensitivity to Iclusig (ponatinib) in culture (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor sensitive HQP1351 Preclinical - Cell line xenograft Actionable In a preclinical study, GZD824 (HQP1351) treatment inhibited cell growth and Fgfr1 phosphorylation and downstream pathway activation in cells expressing FGFR1 V561M in culture and inhibited tumor growth in cell line xenograft models, with a tumor growth inhibition of 49.8% (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor predicted - resistant Futibatinib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lytgobi (futibatinib) failed to inhibit cell growth and Fgfr1 downstream signaling in cells expressing FGFR1 V561M in culture (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor predicted - resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, treatment with Truseltiq (infigratinib) failed to inhibit cell growth and Fgfr1 downstream signaling in cells expressing FGFR1 V561M in culture (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor predicted - resistant Pemigatinib Preclinical - Biochemical Actionable In a preclinical study, a cell line expressing FGFR1 V561M was resistant to Pemazyre (pemigatinib) in a kinase assay (PMID: 36698015). 36698015
FGFR1 V561M Advanced Solid Tumor predicted - resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, treatment with Pemazyre (pemigatinib) failed to inhibit cell growth and Fgfr1 downstream signaling in cells expressing FGFR1 V561M in culture (PMID: 34114373). 34114373
FGFR1 V561M Advanced Solid Tumor predicted - sensitive 3D185 Preclinical - Biochemical Actionable In a preclinical study, 3D185 inhibited kinase activity of FGFR1 V561M in an in vitro assay (PMID: 31438996). 31438996