Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FGFR1 |
| Variant | R189C |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR1 R189C lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189C results in transformation activity similar to wild-type Fgfr1 but an increased growth advantage in a competition assay (PMID: 34272467), increased proliferation, and anchorage-independent colony formation in cultured cells (PMID: 40526877), 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 R189C |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38427977G>A |
| cDNA | c.565C>T |
| Protein | p.R189C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716304.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| NM_001174063.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_047421570.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| XM_017013222.2 | chr8:g.38427977G>A | c.565C>T | p.R189C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR1 R189C | Advanced Solid Tumor | sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 R189C were sensitive to treatment with Fexagratinib (AZD4547) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 R189C | Advanced Solid Tumor | sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Fexagratinib (AZD4547) inhibited viability of cells expressing FGFR1 R189C in culture (PMID: 40526877). | 40526877 |
| FGFR1 R189C | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 R189C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 R189C | Advanced Solid Tumor | predicted - resistant | Dovitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 R189C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). | 34272467 |
| FGFR1 R189C | Advanced Solid Tumor | sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Balversa (erdafitinib) inhibited viability of cells expressing FGFR1 R189C in culture (PMID: 40526877). | 40526877 |
| FGFR1 R189C | Advanced Solid Tumor | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR1 R189C in culture (PMID: 40526877). | 40526877 |
| FGFR1 R189C | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR1 R189C in culture (PMID: 40526877). | 40526877 |