KDR Q472H
Gene Variant Detail

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Gene KDR
Variant Q472H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KDR (VEGFR2) Q472H lies within Ig-like C2-type domain 5 of the Kdr (Vegfr2) protein (UniProt.org). Q472H is a common Kdr polymorphism (PMID: 33099473, PMID: 24990411) and confers a gain of function to the Kdr (Vegfr2) protein, resulting in increased phosphorylation of Kdr (Vegfr2) in cell culture, increased serum VEGF levels, increased microvessel density in tumor samples (PMID: 21712447, PMID: 26631613), and increased cell proliferation and tumor growth in mouse models (PMID: 38201446).
Associated Drug Resistance
Category Variants Paths

KDR mutant KDR act mut KDR Q472H

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Transcript NM_002253.4
gDNA chr4:g.55106807T>A
cDNA c.1416A>T
Protein p.Q472H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002253 chr4:g.55106807T>A c.1416A>T p.Q472H RefSeq GRCh38/hg38
NM_002253.4 chr4:g.55106807T>A c.1416A>T p.Q472H RefSeq GRCh38/hg38
NM_002253.3 chr4:g.55106807T>A c.1416A>T p.Q472H 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KDR act mut Advanced Solid Tumor predicted - sensitive Lucitanib Phase I Actionable In a Phase I trial, Lucitanib (E-3810) demonstrated safety and efficacy in patients with FGF-aberrant or angiogenesis-sensitive advanced solid tumors (PMID: 25193991). 25193991
KDR act mut Advanced Solid Tumor sensitive Sorafenib Preclinical Actionable In a preclinical study, Nexavar (sorafenib) demonstrated efficacy in cells expressing KDR activating mutations (PMID: 19723655). 19723655
KDR act mut bladder urothelial carcinoma predicted - sensitive Sunitinib Phase II Actionable In a Phase II clinical trial of patients with metastatic urothelial cancer, Sutent (sunitinib) demonstrated limited antitumor activity, warranting further investigation of VEGF pathways as a therapeutic target (PMID: 20142593). 20142593
KDR act mut Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, cells expressing KDR activating mutations were sensitive to Sutent (sunitinib) in cell culture (PMID: 19723655). 19723655