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Gene | FGFR2 |
Variant | S789* |
Impact List | nonsense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 S789* results in a premature truncation of the Fgfr2 protein at amino acid 789 of 821 (UniProt.org). S789* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (S694*) promotes colony formation in cell culture and leads to tumor formation in a mouse model (PMID: 35948633). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S789* |
Transcript | NM_000141.5 |
gDNA | chr10:g.121479956_121479957delCTinsAA |
cDNA | c.2366_2367delCTinsAA |
Protein | p.S789* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |