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| Gene | KDR |
| Variant | R1022Q |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | KDR (VEGFR2) R1022Q lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). R1022Q results in tumor formation in mouse models (PMID: 29588308), 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 R1022Q |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55092621C>T |
| cDNA | c.3065G>A |
| Protein | p.R1022Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253 | chr4:g.55092621C>T | c.3065G>A | p.R1022Q | RefSeq | GRCh38/hg38 |
| NM_002253.4 | chr4:g.55092621C>T | c.3065G>A | p.R1022Q | RefSeq | GRCh38/hg38 |
| NM_002253.3 | chr4:g.55092621C>T | c.3065G>A | p.R1022Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KDR R1022Q | gain of function - predicted |