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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, Nov 2022).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 F386L

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Transcript NM_000142.4
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_000142 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_001163213.1 chr4:g.1804404T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804410T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
NM_000142.4 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_011513420 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
XM_006713870.1 chr4:g.1804404T>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_006713868.1 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
XM_006713873 chr4:g.1804410T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804404T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804404T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804410T>C c.1156T>C p.F386L RefSeq GRCh38/hg38
XM_006713869 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
NM_001354809.1 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_011513422.1 chr4:g.1804410T>C c.1156T>C p.F386L RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 F386L myeloid neoplasm sensitive Debio 1347 Preclinical Actionable In a preclinical study, Debio 1347 inhibited proliferation of myeloma cell lines harboring FGFR3 F386L in culture (PMID: 25169980). 25169980