KDR C482R
Gene Variant Detail

Request Content

Contact

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 C482R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KDR (VEGFR2) C482R lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). C482R results in ligand-independent dimerization and phosphorylation of Kdr (Vegfr2) in two studies (PMID: 27052508, PMID: 38355851), but demonstrates phosphorylation similar to wild-type protein in another study (PMID: 21712447), and fails to upregulate Vegfr1 expression or activate beta1 integrin in culture (PMID: 18931684), and therefore, its effect on Kdr (Vegfr2) protein function is unknown.
Associated Drug Resistance
Category Variants Paths

KDR mutant KDR C482R

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_002253.4
gDNA chr4:g.55106779A>G
cDNA c.1444T>C
Protein p.C482R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002253 chr4:g.55106779A>G c.1444T>C p.C482R RefSeq GRCh38/hg38
NM_002253.4 chr4:g.55106779A>G c.1444T>C p.C482R RefSeq GRCh38/hg38
NM_002253.3 chr4:g.55106779A>G c.1444T>C p.C482R 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KDR C482R clear cell renal cell carcinoma predicted - sensitive Crizotinib + Pazopanib Case Reports/Case Series Actionable In a Phase I trial, Xalkori (crizotinib) and Votrient (pazopanib) combination treatment resulted in a partial response lasting 36 weeks in a patient with clear cell renal cancer harboring KDR (VEGFR2) C482R, KIT M541L, and VHL D121Y, who achieved stable disease for 1 year on Votrient (pazopanib) monotherapy previously (PMID: 33994796; NCT01548144). 33994796