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Gene | FGFR3 |
Variant | V555L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR3 mutant FGFR3 V555L |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805767G>C |
cDNA | c.1663G>C |
Protein | p.V555L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.4 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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