FGFR3 N540K
Gene Variant Detail

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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
NM_000142.5 chr4:g.1805644C>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_047449823.1 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_006713873.1 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_006713873 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_006713873.2 chr4:g.1805644C>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_006713870 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 S249C FGFR3 N540K intrahepatic cholangiocarcinoma predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited viability of a bladder cancer cell line harboring FGFR3 S249C and expressing FGFR3 N540K in culture (PMID: 38437671). 38437671
FGFR3 S249C FGFR3 N540K urinary bladder cancer resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, a bladder cancer cell line harboring FGFR3 S249C and expressing FGFR3 N540K was resistant to Pemazyre (pemigatinib) in culture (PMID: 38437671). 38437671
FGFR3 S249C FGFR3 N540K urinary bladder cancer sensitive KIN-3248 Preclinical - Cell culture Actionable In a preclinical study, KIN-3248 inhibited viability of a bladder cancer cell line harboring FGFR3 S249C and expressing FGFR3 N540K in culture (PMID: 38437671). 38437671
FGFR3 S249C FGFR3 N540K PIK3CA E545K transitional cell carcinoma predicted - resistant Erdafitinib Case Reports/Case Series Actionable In a clinical case study, FGFR3 N540K was identified in the post-progression biopsy of a patient with upper tract urothelial carcinoma harboring FGFR3 S249C and PIK3CA E545K who previously responded to Balversa (erdafitinib) treatment (PMID: 37377403). 37377403
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V bladder urothelial carcinoma predicted - resistant Futibatinib Case Reports/Case Series Actionable In a clinical case study, FGFR3 N540K, FGFR3 V555L, and FGFR3 L608V were identified in the post-progression circulating tumor DNA of a patient with bladder urothelial carcinoma harboring FGFR3 Y373C who previously responded to Lytgobi (futibatinib) treatment (PMID: 37377403). 37377403
FGFR3 Y373C FGFR3 N540K transitional cell carcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-201), FGFR3 N540K was identified in post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 Y373C who previously achieved stable disease on Pemazyre (pemigatinib) treatment (PMID: 37956738; NCT02872714). 37956738