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 | KDR |
| Variant | C482R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KDR (VEGFR2) C482R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). C482R results in ligand-independent dimerization and phosphorylation of Kdr (Vegfr2) in two studies (PMID: 27052508, PMID: 38355851), but demonstrates phosphorylation similar to wild-type protein in another study (PMID: 21712447), and fails to upregulate Vegfr1 expression or activate beta1 integrin in culture (PMID: 18931684), and therefore, its effect on Kdr (Vegfr2) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR C482R |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55106779A>G |
| cDNA | c.1444T>C |
| Protein | p.C482R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253.3 | chr4:g.55106779A>G | c.1444T>C | p.C482R | RefSeq | GRCh38/hg38 |
| NM_002253 | chr4:g.55106779A>G | c.1444T>C | p.C482R | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55106779A>G | c.1444T>C | p.C482R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|