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 | D646Y |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 D646Y lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D646Y demonstrates autophosphorylation and substrate phosphorylation similar to the level of wild-type Fgfr3 in cell culture (PMID: 26992226). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 D646Y |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806150G>T |
cDNA | c.1936G>T |
Protein | p.D646Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
NM_022965 | chr4:g.1806932G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
NM_022965.3 | chr4:g.1806932G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
NM_022965.4 | chr4:g.1806932G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806150G>T | c.1936G>T | p.D646Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|