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Gene | FGFR1 |
Variant | V102I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 V102I lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). V102I results in reduced transcriptional activity as compared to wild-type Fgfr1 in a reporter assay (PMID: 23657145), however, acts similar to wild-type human Fgfr1 protein in a zebrafish rescue assay (PMID: 26931467), and therefore, its effect on Fgfr1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 V102I |
Transcript | NM_023110.3 |
gDNA | chr8:g.38429736C>T |
cDNA | c.304G>A |
Protein | p.V102I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |