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, and confers resistance to FGFR inhibitors in culture (PMID: 27053219), and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance Y

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Transcript NM_000142
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
NM_022965 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
XM_011513422 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_006713870 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_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_006713872 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
NM_000142 chr4:g.1799759C>T c.392C>T p.S131L RefSeq GRCh38/hg38

Filtering

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  • 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"

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 S131L unknown
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 BGJ398 Preclinical - Cell culture Actionable In a preclinical study, a head and neck squamous cell carcinoma cell line expressing FGFR3 S131L demonstrated decreased sensitivity to BGJ398 compared to cells expressing wild-type FGFR3 in culture (PMID: 27053219). 27053219