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Gene | FGFR3 |
Variant | N428S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 N428S lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). N428S has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 N428S |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804840A>G |
cDNA | c.1283A>G |
Protein | p.N428S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022965.4 | chr4:g.1805643A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1804840A>G | c.1283A>G | p.N428S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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