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Gene | FGFR3 |
Variant | F386L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 F386L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F386L has been reported as a polymorphism (PMID: 19377444, PMID: 16877735), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 F386L |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804410T>C |
cDNA | c.1156T>C |
Protein | p.F386L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354809.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_047449820.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713869 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713869.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713870 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713870.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_047449821.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713868 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713868.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713869.2 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1804410T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713868.2 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
XM_006713870.2 | chr4:g.1804404T>C | c.1156T>C | p.F386L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 F386L | myeloid neoplasm | sensitive | Zoligratinib | Preclinical | Actionable | In a preclinical study, Debio 1347 inhibited proliferation of myeloma cell lines harboring FGFR3 F386L in culture (PMID: 25169980). | 25169980 |