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Gene | FGFR1 |
Variant | E138* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 E138* results in a premature truncation of the Fgfr1 protein at amino acid 138 of 822 (UniProt.org). E138* results in a loss of multiple functional domains (UniProt.org), but also results in similar cell proliferation and viability compared to wild-type Fgfr1 in culture (PMID: 29533785), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 E138* |
Transcript | NM_023110.3 |
gDNA | chr8:g.38428382C>A |
cDNA | c.412G>T |
Protein | p.E138* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |