FGFR3 S131L - Gene Variant Detail

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Gene FGFR3
Variant S131L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 S131L lies within the extracellular domain of the Fgfr3 protein (UniProt.org). The functional effect of S131L is conflicting, as it results in decreased proliferation and cell viability compared to wild-type Fgfr3 in one study (PMID: 29533785), however, in another study, demonstrates increased cell proliferation under some cell culture conditions (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 S131L

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Transcript NM_000142.5
gDNA chr4:g.1799759C>T
cDNA c.392C>T
Protein p.S131L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713870 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_000142 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713868 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713869 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713872 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713871 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513422 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713873 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001163213 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_022965 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_011513420 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 S131L head and neck squamous cell carcinoma decreased response Infigratinib Preclinical - Cell culture Actionable In a preclinical study, a head and neck squamous cell carcinoma cell line expressing FGFR3 S131L demonstrated decreased sensitivity to Truseltiq (infigratinib) compared to cells expressing wild-type FGFR3 in culture (PMID: 27053219). 27053219