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Gene | FGFR2 |
Variant | D101Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 D101Y lies within the extracellular Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). D101Y results in a growth advantage relative to wild-type Fgfr2 in a competition assay (PMID: 34272467) and increased transformation activity in cultured cells (PMID: 34272467, PMID: 18552176). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 D101Y |
Transcript | NM_000141.5 |
gDNA | chr10:g.121565513C>A |
cDNA | c.301G>T |
Protein | p.D101Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |