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Gene | FGFR2 |
Variant | N550D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 N550D (corresponds to N549D in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550D has been identified in the scientific literature (PMID: 37843855, PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 N550D |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498522T>C |
cDNA | c.1648A>G |
Protein | p.N550D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144919.2 | chr10:g.121488065T>C | c.1648A>G | p.N550D | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498522T>C | c.1648A>G | p.N550D | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498522T>C | c.1648A>G | p.N550D | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487993T>C | c.1648A>G | p.N550D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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