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Gene | FGFR2 |
Variant | K41E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 K41E lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). K41E results in decreased Fgfr2 expression, but demonstrates subcellular localization, basal and ligand-dependent Erk phosphorylation levels similar to wild-type Fgfr2 in culture (PMID: 30761385), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 K41E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121565693T>C |
cDNA | c.121A>G |
Protein | p.K41E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121565693T>C | c.121A>G | p.K41E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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