Gene Variant Detail

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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 is a common Fgfr3 polymorphism (PMID: 19377444, PMID: 16877735), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2020).
Associated Drug Resistance

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Transcript NM_000142
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
XM_006713869 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_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
XM_006713873 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
NM_000142 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 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 F386L unknown
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