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Gene | FGFR3 |
Variant | R112Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 R112Q lies within Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). R112Q has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 R112Q |
Transcript | NM_000142.5 |
gDNA | chr4:g.1799479G>A |
cDNA | c.335G>A |
Protein | p.R112Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |