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Gene | FGFR3 |
Variant | K413N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 K413N lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). K413N has been identified in the scientific literature (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 K413N |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804493G>C |
cDNA | c.1239G>C |
Protein | p.K413N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1804493G>C | c.1239G>C | p.K413N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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