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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, Feb 2024). |
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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 V553M | unknown | |
FGFR3 S249C FGFR3 V553M | ||
FGFR3 S249C FGFR3 V553M FGFR3 V555L | ||
FGFR3 S249C FGFR3 M528I FGFR3 V553M | ||
FGFR2 R255W FGFR3 S249C FGFR3 V553M FGFR3 K650M |