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 | G55E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | KDR (VEGFR2) G55E lies within Ig-like C2-type domain 1 of the Kdr (Vegfr2) protein (UniProt.org). G55E results in decreased expression of Kdr (Vegfr2), reduced basal level and ligand-dependent Erk phosphorylation in cell culture (PMID: 30761385). |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR G55E |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55118798C>T |
| cDNA | c.164G>A |
| Protein | p.G55E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253.3 | chr4:g.55118798C>T | c.164G>A | p.G55E | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55118798C>T | c.164G>A | p.G55E | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|