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| Gene | FGFR2 |
| Variant | D75N |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 D75N lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). D75N results in decreased serum dependency for growth in culture (PMID: 40526877), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 D75N |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121565591C>T |
| cDNA | c.223G>A |
| Protein | p.D75N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144914.1 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121565591C>T | c.223G>A | p.D75N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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