Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR3 |
Variant | V553M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 V553M lies within the protein kinase domain (UniProt.org). V553M has been associated with FGFR inhibitor resistance (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR3 mutant FGFR3 V553M |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805761G>A |
cDNA | c.1657G>A |
Protein | p.V553M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |