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| Gene | FGFR1 |
| Variant | C178S |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR1 C178S lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). C178S results in stabilization of the Fgfr1 dimer state in an in vitro assay (PMID: 27596331), and therefore, is predicted to lead to a gain of Fgfr1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 C178S |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38428010A>T |
| cDNA | c.532T>A |
| Protein | p.C178S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716303.4 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_006716304 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_023110 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_006716303 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_047421570.1 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_017013222 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_001174063.1 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_017013221 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_017013222.2 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_001174063 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38428010A>T | c.532T>A | p.C178S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR1 C178S | Advanced Solid Tumor | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR1 C178S in culture (PMID: 40526877). | 40526877 |
| FGFR1 C178S | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR1 C178S in culture (PMID: 40526877). | 40526877 |
| FGFR1 C178S | Advanced Solid Tumor | sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Balversa (erdafitinib) inhibited viability of cells expressing FGFR1 C178S in culture (PMID: 40526877). | 40526877 |
| FGFR1 C178S | Advanced Solid Tumor | sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Fexagratinib (AZD4547) inhibited viability of cells expressing FGFR1 C178S in culture (PMID: 40526877). | 40526877 |