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Gene | FGFR3 |
Variant | H673Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 H673Y lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H673Y has been identified in sequencing studies (PMID: 37682528), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 H673Y |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806314C>T |
cDNA | c.2017C>T |
Protein | p.H673Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1806314C>T | c.2017C>T | p.H673Y | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806314C>T | c.2017C>T | p.H673Y | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806314C>T | c.2017C>T | p.H673Y | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806314C>T | c.2017C>T | p.H673Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 H673Y | unknown |