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Gene | FGFR2 |
Variant | M540A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR2 M540A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M540A demonstrates decreased kinase activity compared to wild-type Fgfr2 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 M540A |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498548_121498549delATinsGC |
cDNA | c.1618_1619delATinsGC |
Protein | p.M540A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121498548_121498549delATinsGC | c.1618_1619delATinsGC | p.M540A | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498548_121498549delATinsGC | c.1618_1619delATinsGC | p.M540A | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121498548_121498549delATinsGC | c.1618_1619delATinsGC | p.M540A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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