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Gene | FGFR3 |
Variant | D222N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 D222N lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). D222N has been identified in the scientific literature (PMID: 27271022), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 D222N |
Transcript | NM_000142.5 |
gDNA | chr4:g.1801668G>A |
cDNA | c.664G>A |
Protein | p.D222N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |