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Gene | FGFR2 |
Variant | K660E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 K660E (corresponds to K659E in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K660E results in increased phosphorylation of Fgfr2, activation of downstream signaling, and is transforming in cell culture (PMID: 23786770). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 K660E |
Transcript | NM_022970.4 |
gDNA | chr10:g.121488002T>C |
cDNA | c.1978A>G |
Protein | p.K660E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.4 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488002T>C | c.1978A>G | p.K660E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT01888562 | Phase I | Ponatinib | Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma | Withdrawn | 0 |