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Gene | FGFR2 |
Variant | K525E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 K525E (corresponds to K641E in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K525E results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 K525E |
Transcript | NM_001144917.2 |
gDNA | chr10:g.121488056T>C |
cDNA | c.1573A>G |
Protein | p.K525E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717710.4 | chr10:g.121500874T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_006717708 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015920 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121488056T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121500874T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121488056T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121488056T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121500874T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_006717708.3 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015920.2 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015924 | chr10:g.121496534T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_006717708.4 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015924.3 | chr10:g.121496534T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015924.2 | chr10:g.121496534T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121500868T>C | c.1573A>G | p.K525E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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