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Gene | FGFR2 |
Variant | I547D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 I547D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I547D has been identified in sequencing studies (PMID: 22383975), 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 I547D |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498527_121498528delATinsGA |
cDNA | c.1639_1640delATinsGA |
Protein | p.I547D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121498527_121498528delATinsGA | c.1639_1640delATinsGA | p.I547D | RefSeq | GRCh38/hg38 |
XM_006717712 | chr10:g.121488051_121488053delTATinsGTC | c.1639_1641delATAinsGAC | p.I547D | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498527_121498528delATinsGA | c.1639_1640delATinsGA | p.I547D | RefSeq | GRCh38/hg38 |
XM_024447891.1 | chr10:g.121488051_121488053delATAinsGAC | c.1639_1641delATAinsGAC | p.I547D | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498527_121498528delATinsTC | c.1639_1640delATinsGA | p.I547D | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121488051_121488053delATAinsGAC | c.1639_1641delATAinsGAC | p.I547D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 I547D | unknown |