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| Gene | KDR |
| Variant | R1032Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KDR (VEGFR2) R1032Q lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1032Q results in decreased ligand-induced phosphorylation of Kdr (Vegfr2) and Mapk in cell culture (PMID: 28743916), but demonstrates increased phosphorylation of Erk, Akt and p85 leading to altered extracellular matrix architecture in culture in a different study (PMID: 41535257), and induces tumor growth in mouse models above wild-type protein (PMID: 29588308, PMID: 41535257), and therefore, its effect on Kdr (Vegfr2) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR R1032Q |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55090053C>T |
| cDNA | c.3095G>A |
| Protein | p.R1032Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253 | chr4:g.55090053C>T | c.3095G>A | p.R1032Q | RefSeq | GRCh38/hg38 |
| NM_002253.3 | chr4:g.55090053C>T | c.3095G>A | p.R1032Q | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55090053C>T | c.3095G>A | p.R1032Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KDR R1032Q | unknown |