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 | S1100F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KDR (VEGFR2) S1100F lies within the protein kinase domain of the Kdr (Vegfr2) protein (UniProt.org). S1100F results in decreased ligand-induced phosphorylation of Kdr (Vegfr2) and Mapk in cell culture (PMID: 28743916), but induces increased tumor growth in a mouse model (PMID: 29588308), and therefore, its effect on Kdr (Vegfr2) protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
KDR mutant KDR S1100F |
| Transcript | NM_002253.4 |
| gDNA | chr4:g.55089696G>A |
| cDNA | c.3299C>T |
| Protein | p.S1100F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002253.4 | chr4:g.55089696G>A | c.3299C>T | p.S1100F | RefSeq | GRCh38/hg38 |
| NM_002253.3 | chr4:g.55089696G>A | c.3299C>T | p.S1100F | RefSeq | GRCh38/hg38 |
| NM_002253 | chr4:g.55089696G>A | c.3299C>T | p.S1100F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|