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Gene | FGFR2 |
Variant | A648T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FGFR2 A648T lies within the protein kinase domain of the Fgfr2 protein (PMID: 19147536). A648T confers a loss of function to the Fgfr2 protein demonstrated by decreased proliferation relative to wild-type Fgfr2 in a competition assay and decreased transformation activity (PMID: 34272467), decreaed protein kinase activity, and reduced downstream MAPK signaling pathway activation in cultured cells (PMID: 19147536). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 A648T |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488035C>T |
cDNA | c.1942G>A |
Protein | p.A648T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121488035C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121488035C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121488095C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121488095C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121488035C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121488095C>T | c.1942G>A | p.A648T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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