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| Gene | FGFR1 |
| Variant | K656* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR1 K656* results in a premature truncation of the Fgfr1 protein at amino acid 656 of 822 (UniProt.org). K656* results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 K656* |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38414790T>A |
| cDNA | c.1966A>T |
| Protein | p.K656* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011544449.2 | chr8:g.38414198T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_017013226.2 | chr8:g.38414198T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_011544450.3 | chr8:g.38414198T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_047421575.1 | chr8:g.38415857T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38414790T>A | c.1966A>T | p.K656* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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