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Gene | FGFR2 |
Variant | E731K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 E731K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E731K results in increased phosphorylation of Fgfr2, Erk signaling, and transcriptional activation of Runx2 in culture (PMID: 21928350), however in another study, results in cell proliferation and viability levels similar to wild-type Fgfr2 in two different cell lines (PMID: 29533785), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 E731K |
Transcript | NM_000141.5 |
gDNA | chr10:g.121485399C>T |
cDNA | c.2191G>A |
Protein | p.E731K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121485399C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121485459C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121485399C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121485459C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121485459C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121485399C>T | c.2191G>A | p.E731K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 E731K | unknown |