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Gene FGFR3
Variant N540K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 N540K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540K results in increased Fgfr3 autophosphorylation and substrate phosphorylation, and is transforming in cell culture (PMID: 26992226).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 N540K

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Transcript NM_000142.5
gDNA chr4:g.1805644C>G
cDNA c.1620C>G
Protein p.N540K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 N540K Advanced Solid Tumor resistant Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K were reistant to growth inhibition by AZD4547 in culture (PMID: 26992226). 26992226
FGFR3 N540K Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K were resistant to Truseltiq (infigratinib) in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited proliferation of transformed cells over expressing FGFR3 N540K in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells over expressing FGFR3 N540K in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor decreased response Zoligratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to Debio 1347 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinicl study, Balversa (erdafitinib) inhibited proliferation of transformed cells expressing FGFR3 N540K in culture (PMID: 26992226). 26992226
FGFR3 N540K Advanced Solid Tumor decreased response LY2874455 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to LY2874455 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor decreased response FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to FIIN-2 in culture (PMID: 28034880). 28034880