Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR2 |
Variant | K526E |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 K526E lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K526E results in increased Fgfr2 autophosphorylation in an in vitro assay (PMID: 17803937), 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 K526E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498591T>C |
cDNA | c.1576A>G |
Protein | p.K526E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717712 | chr10:g.121496534T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121496534T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498591T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121488056T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
XM_024447891.1 | chr10:g.121496534T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
XM_017015921.3 | chr10:g.121500862T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498591T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
XM_017015921.2 | chr10:g.121500862T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498591T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121488056T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121488056T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
XM_017015921 | chr10:g.121500862T>C | c.1576A>G | p.K526E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|