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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 |
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_047449823.1 | chr4:g.1805644C>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 | 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_006713870 | chr4:g.1805635C>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_006713873.1 | 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 |
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 |
XM_047449824.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 |