Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR3 |
Variant | Y379C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 Y379C lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y379C has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 Y379C |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804390A>G |
cDNA | c.1136A>G |
Protein | p.Y379C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1804390A>G | c.1136A>G | p.Y379C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 Y379C | unknown |