KDR Q472H
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 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

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.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_002253.3 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 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
  • 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 Q472H melanoma sensitive unspecified VEGFR2 antibody Preclinical Actionable In a preclinical study, human melanoma cells harboring KDR (VEGFR2) Q472H demonstrated increased sensitivity to treatment with a VEGFR2 (KDR) function-blocking antibody compared to cells with wild-type KDR (VEGFR), resulting in decreased proliferation and invasion in culture (PMID: 26631613). 26631613
KDR Q472H melanoma sensitive Dabrafenib + Lenvatinib Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of Tafinlar (dabrafenib) and Lenvima (lenvatinib) synergistically inhibited viability of melanoma cell lines expressing KDR Q472H compared to cells expressing wild-type KDR in culture (PMID: 38201446). 38201446
KDR Q472H melanoma sensitive Dabrafenib + Lenvatinib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Lenvima (lenvatinib) treatment to the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) decreased proliferation compared to the combination alone in melanoma cell lines expressing KDR Q472H in culture (PMID: 38201446). 38201446
KDR Q472H epithelioid sarcoma predicted - sensitive Everolimus + Vandetanib Case Reports/Case Series Actionable In a Phase I trial, treatment with the combination of Afinitor (everolimus) and Caprelsa (vandetanib) was well tolerated and resulted in a median progression-free survival of 3.3 months, median overall survival of 4.6 months, clinical benefit rate of 38% in pediatric and young adult patients with advanced solid tumors, including 1 partial response in a 20 year-old patient with metastatic epithelioid sarcoma harboring germline KDR Q472H (PMID: 37879233; NCT01582191). 37879233