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Gene | FGFR3 |
Variant | S679F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 S679F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S679F has been identified in sequencing studies (PMID: 27998968), 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 S679F |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806551C>T |
cDNA | c.2036C>T |
Protein | p.S679F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713868 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713868.2 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713869.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713869.2 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713869 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
XM_006713868.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
XM_047449820.1 | chr4:g.1806320_1806321delAGinsTT | c.2035_2036delAGinsTT | p.S679F | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806551C>T | c.2036C>T | p.S679F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 S679F | unknown |