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Gene | FGFR2 |
Variant | A553D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 A553D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). A553D has been predicted to affect Fgfr2 protein stability by structural modeling (PMID: 32859654), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 A553D |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498509G>T |
cDNA | c.1658C>A |
Protein | p.A553D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121498509G>T | c.1658C>A | p.A553D | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498509G>T | c.1658C>A | p.A553D | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121488034G>T | c.1658C>A | p.A553D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 A553D | unknown | |
BRAF V600E FGFR2 A553D |