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Gene | FGFR2 |
Variant | K714R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 K714R (also referred to as K715R from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K714R may be associated with resistance to Fgfr inhibitors, as the corresponding K715R variant in isoform IIIb has been associated with resistance to Fgfr inhibition in the context of an FGFR2 fusion (PMID: 31109923), 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 K714R |
Transcript | NM_000141.5 |
gDNA | chr10:g.121485449T>C |
cDNA | c.2141A>G |
Protein | p.K714R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121485449T>C | c.2141A>G | p.K714R | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121485449T>C | c.2141A>G | p.K714R | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121485449T>C | c.2141A>G | p.K714R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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