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| Gene | FGFR1 |
| Variant | R209H |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | FGFR1 R209H lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R209H has not been biochemically characterized, but results in cell proliferation and viability levels similar to wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 R209H |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38426241C>T |
| cDNA | c.626G>A |
| Protein | p.R209H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716303.4 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_006716303 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_006716304 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_001174063 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_047421570.1 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_017013222.2 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_017013222 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_001174063.1 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_001174063.2 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| XM_017013221 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| NM_023110 | chr8:g.38426241C>T | c.626G>A | p.R209H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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