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Gene | FGFR1 |
Variant | T319A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR1 T319A lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). T319A 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 T319A |
Transcript | NM_023110.3 |
gDNA | chr8:g.38421923T>C |
cDNA | c.955A>G |
Protein | p.T319A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |