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| Gene | KDR |
| Variant | G539R |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | KDR (VEGFR2) G539R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). G539R is associated with increased expression of Kdr (Vegfr2) and increased ligand-dependent Erk phosphorylation in cell culture (PMID: 30761385), and therefore, is predicted to lead to a gain of Kdr (Vegfr2) protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR act mut KDR G539R |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55105862C>T |
| cDNA | c.1615G>A |
| Protein | p.G539R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253.3 | chr4:g.55105862C>T | c.1615G>A | p.G539R | RefSeq | GRCh38/hg38 |
| NM_002253 | chr4:g.55105862C>T | c.1615G>A | p.G539R | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55105862C>T | c.1615G>A | p.G539R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KDR G539R | gain of function - predicted |