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Gene | FGFR3 |
Variant | Q256R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 Q256R lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). Q256R has been identified in sequencing studies (PMID: 28199989), 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 Q256R |
Transcript | NM_000142.5 |
gDNA | chr4:g.1801862A>G |
cDNA | c.767A>G |
Protein | p.Q256R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |