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FGFR1 R189C - Gene Variant Detail

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Gene FGFR1
Variant R189C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R189C lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189C results in an increased growth advantage in a competition assay but transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R189C

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Transcript NM_023110.3
gDNA chr8:g.38427977G>A
cDNA c.565C>T
Protein p.R189C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001174063.2 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38427977G>A c.565C>T p.R189C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 R189C Advanced Solid Tumor predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R189C were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R189C Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R189C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R189C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R189C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467