KDR R1032Q
Gene Variant Detail

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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

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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_002253.4 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 chr4:g.55090053C>T c.3095G>A p.R1032Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KDR R1032Q colorectal cancer sensitive Cabozantinib Preclinical - Cell culture Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) inhibited reduced ERK phosphorylation and inhibited growth of a colorectal cancer cell line harboring KDR (VEGFR2) R1032Q in culture (PMID: 29588308). 29588308
KDR R1032Q colorectal cancer sensitive Lenvatinib Preclinical - Cell culture Actionable In a preclinical study, expression of KDR (VEGFR2) R1032Q in a colorectal cancer cell line resulted in increased sensitivity to Lenvima (lenvatinib), leading to increased growth inhibition in culture (PMID: 29588308). 29588308
KDR R1032Q basal cell carcinoma predicted - sensitive Pazopanib Case Reports/Case Series Actionable In a clinical case study, Votrient (pazopanib) treatment in a patient with metastatic basal cell carcinoma harboring KDR R1032Q who had progressed on treatment with Erivedge (vismodegib), resulted in a complete response, but treatment was discontinued after 6 months due to toxic effects, and disease relapse followed 3 months later (PMID: 28384659). 28384659