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Gene | FGFR1 |
Variant | G703S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 G703S lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G703S results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 G703S |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414231C>T |
cDNA | c.2107G>A |
Protein | p.G703S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006716304.1 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38412512_38412514delGGGinsAGC | c.2107_2109delGGGinsAGC | p.G703S | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716310.4 | chr8:g.38412512_38412514delGGGinsAGC | c.2107_2109delGGGinsAGC | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38412512_38412514delGGGinsAGC | c.2107_2109delGGGinsAGC | p.G703S | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38414231C>T | c.2107G>A | p.G703S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR1 G703S | unknown |