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Gene | FGFR2 |
Variant | I288_D304del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 I288_D304del results in the deletion of 17 amino acids in Ig-like C2-type domain 3 of the Fgfr2 protein from amino acids 288 to 304 (UniProt.org). I288_D304del results in increased proliferation, migration, and invasion in cultured cells (PMID: 37964396), 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 I288_D304del FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I288_D304del |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520008_121520058del51 |
cDNA | c.862_912del51 |
Protein | p.I288_D304del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.2 | chr10:g.121520008_121520058del51 | c.862_912del51 | p.I288_D304del | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520008_121520058del51 | c.862_912del51 | p.I288_D304del | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520008_121520058del51 | c.862_912del51 | p.I288_D304del | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520008_121520058del51 | c.862_912del51 | p.I288_D304del | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520008_121520058del51 | c.862_912del51 | p.I288_D304del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 I288_D304del | gain of function - predicted |