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Gene | FGFR3 |
Variant | V555M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 V555M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555M results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226), and is associated with resistance to Fgfr inhibitors in culture (PMID: 28034880). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 V555M |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805767G>A |
cDNA | c.1663G>A |
Protein | p.V555M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713873 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1805767G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1805761G>A | c.1663G>A | p.V555M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 V555M FGFR3 L608V | transitional cell carcinoma | predicted - resistant | Infigratinib | Case Reports/Case Series | Actionable | In a clinical study, a patient with metastatic urothelial carcinoma progressed while being treated with Truseltiq (infigratinib) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) and FGFR3 L608V (also corresponds to L496V) (PMID: 29848605). | 29848605 |