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| Gene | FGFR1 |
| Variant | Y374C |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR1 Y374C lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y374C is predicted to confer a gain of function to Fgfr1, as the corresponding variant in an alternate isoform (Y372C) results in increased activity in cell culture (PMID: 15625620). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 Y374C |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38419696T>C |
| cDNA | c.1121A>G |
| Protein | p.Y374C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047421570.1 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716311 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023105 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_017013222 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_017013222.2 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716310.3 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174066.1 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023105.3 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174063 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174063.1 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716312.2 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716310.4 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174066.2 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716303 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_017013221 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023105.2 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716312 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716304 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716312.2 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_023110 | chr8:g.38419696T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| NM_001174066 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| XM_006716310 | chr8:g.38418270T>C | c.1121A>G | p.Y374C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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