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 | H643D |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 H643D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H643D demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 H643D |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806141C>G |
cDNA | c.1927C>G |
Protein | p.H643D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713873 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806141C>G | c.1927C>G | p.H643D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 H643D | no effect |