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Gene | FGFR1 |
Variant | R250W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 R250W lies within the D2-D3 linker region of the Fgfr1 protein (PMID: 23276709). R250W results in similar cell proliferation and viability levels to wild-type Fgfr1 in two different cell lines in culture in one study (PMID: 29533785), decreased proliferation relative to wild-type Fgfr1 in a competition assay, and transformation activity similar to wild-type Fgfr1 in another study (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R250W |
Transcript | NM_023110.3 |
gDNA | chr8:g.38424697G>A |
cDNA | c.748C>T |
Protein | p.R250W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38424697G>A | c.748C>T | p.R250W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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