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Gene | FGFR1 |
Variant | G70R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 G70R lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). G70R results in Erk1/2 phosphorylation similar to wild-type Fgfr1 in cultured cells and Fgfr1 signaling activity similar to wild-type in 1 assay but a modest decrease in another reporter assay (PMID: 32666525), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 G70R |
Transcript | NM_023110.3 |
gDNA | chr8:g.38429832C>T |
cDNA | c.208G>A |
Protein | p.G70R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |