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Gene | FGFR1 |
Variant | M563T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 M563T (corresponds to M532T in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M563T has been identified in the scientific literature (PMID: 34551969), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 M563T |
Transcript | NM_001174067.2 |
gDNA | chr8:g.38417374A>G |
cDNA | c.1688T>C |
Protein | p.M563T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011544444.2 | chr8:g.38417374A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
XM_017013220.2 | chr8:g.38417368A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
NM_001174067.2 | chr8:g.38417374A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
XM_017013219.2 | chr8:g.38417368A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
NM_001174067.1 | chr8:g.38417374A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
XM_011544447.3 | chr8:g.38417374A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
XM_011544445.3 | chr8:g.38417374A>G | c.1688T>C | p.M563T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR1 M563T | intrahepatic cholangiocarcinoma | predicted - sensitive | Futibatinib | Case Reports/Case Series | Actionable | In a Phase I trial, Lytgobi (futibatinib) treatment led to an overall objective response rate of 15.8% (3/19, 3 partial responses) and a disease control rate of 47.4% (9/19), with stable disease in 6, in patients with urothelial cancer harboring an FGFR3 mutation or FGFR1 mutation, including a partial response with a progression-free survival of 6.8 mo and a duration of response of 5.6 mo in a urothelial cancer patient harboring FGFR1 M563T and amplifications in FGF3 and FGF19 (PMID: 34551969; NCT02052778). | 34551969 |