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Gene | FGFR2 |
Variant | D479N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 D479N lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). D479N has been identified in sequencing studies (PMID: 25035393), 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 D479N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121503794C>T |
cDNA | c.1435G>A |
Protein | p.D479N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121503794C>T | c.1435G>A | p.D479N | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121503794C>T | c.1435G>A | p.D479N | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121503794C>T | c.1435G>A | p.D479N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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