Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene FGFR1
Variant S125L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR1 S125L lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S125L results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 S125L

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.

Transcript NM_023110.3
gDNA chr8:g.38428420G>A
cDNA c.374C>T
Protein p.S125L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013222 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716310.3 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_006716307 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716310 chr8:g.38426226_38426227delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_023110 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_023105.2 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013226 chr8:g.38428000_38428001delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_015850 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_023105 chr8:g.38426226_38426227delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174066 chr8:g.38426226_38426227delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716312 chr8:g.38426226_38426227delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_017013223 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013226.2 chr8:g.38428000_38428001delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_011544448.2 chr8:g.38428000_38428001delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_017013226.1 chr8:g.38428000_38428001delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001174065 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013224 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_011544448.1 chr8:g.38428000_38428001delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001174066.1 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_006716311 chr8:g.38426226_38426227delCTinsAG c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_017013225 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
XM_006716306 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38426226_38426227delAGinsCT c.373_374delAGinsCT p.S125L RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38428420G>A c.374C>T p.S125L RefSeq GRCh38/hg38
XM_011544448 chr8:g.38428000_38428001delCTinsAG c.373_374delAGinsCT p.S125L 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
FGFR1 S125L Advanced Solid Tumor predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 S125L Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 S125L were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467