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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 |
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_011544448 | chr8:g.38428000_38428001delCTinsAG | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
NM_023105.3 | chr8:g.38426226_38426227delAGinsCT | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013221 | 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_047421573.1 | 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 |
NM_001174065.2 | 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_017013224.2 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
NM_001354369.2 | 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 |
XM_006716303.3 | 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_001174065.1 | 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_006716311.1 | chr8:g.38426226_38426227delAGinsCT | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013221.1 | 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 |
NM_001354367.1 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
XM_011544448.2 | chr8:g.38428000_38428001delAGinsCT | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
NM_001174066.2 | 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_006716304.1 | chr8:g.38428420G>A | c.374C>T | 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_006716310.3 | chr8:g.38426226_38426227delAGinsCT | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
XM_006716307.2 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
XM_006716307 | 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_006716312.2 | 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 |
XM_006716303 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
NM_023110 | 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 |
XM_047421570.1 | 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_023110.3 | 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_017013226.1 | 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_006716304.2 | 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_017013225.2 | 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 |
XM_017013225 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
NM_001174066 | chr8:g.38426226_38426227delCTinsAG | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013224 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
NM_015850 | 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 |
NM_015850.3 | 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_001174063.2 | 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_006716307.1 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013223 | 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_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 |
XM_006716312.2 | chr8:g.38426226_38426227delAGinsCT | c.373_374delAGinsCT | p.S125L | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38428420G>A | c.374C>T | p.S125L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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