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Gene | FGFR1 |
Variant | V592M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 V592M (corresponds to V561M in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V592M has been identified in the scientific literature (PMID: 34250399), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 V592M |
Transcript | NM_001174067.2 |
gDNA | chr8:g.38416043C>T |
cDNA | c.1774G>A |
Protein | p.V592M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |