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Gene | FGFR1 |
Variant | Y374C |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR1 Y374C lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y374C is predicted to confer a gain of function to Fgfr1, as the corresponding variant in an alternate isoform (Y372C) results in increased activity in cell culture (PMID: 15625620). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 Y374C |
Transcript | NM_023110.3 |
gDNA | chr8:g.38419696T>C |
cDNA | c.1121A>G |
Protein | p.Y374C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |