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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
XM_017013221.1 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_006716303.3 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
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
XM_006716304.2 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 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 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

Filtering

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  • Use simple literal full or partial string matches
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Molecular Profile Protein Effect Treatment Approaches
FGFR1 V561M gain of function FGFR Inhibitor (Pan) FGFR1 Inhibitor