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Gene | FGFR1 |
Variant | A604T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 A604T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A604T results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 inact mut FGFR1 A604T |
Transcript | NM_023110.3 |
gDNA | chr8:g.38415914C>T |
cDNA | c.1810G>A |
Protein | p.A604T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |