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Gene | KDR |
Variant | R1118* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | KDR (VEGFR2) R1118* results in a premature truncation of the Kdr (Vegfr2) protein at amino acid 1118 of 1356 (UniProt.org). R1118* has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Oct 2020). |
Associated Drug Resistance |
Transcript | NM_002253.3 |
gDNA | chr4:g.55089426G>A |
cDNA | c.3352C>T |
Protein | p.R1118* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002253.3 | chr4:g.55089426G>A | c.3352C>T | p.R1118* | RefSeq | GRCh38/hg38 |
NM_002253 | chr4:g.55089426G>A | c.3352C>T | p.R1118* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KDR R1118* | unknown |