KDR

kinase insert domain receptor

Summary

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

Known Variants137 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs763206832	4:55,946,169	C/T	—	uncertain significance
rs142258660	4:55,946,191	T/A	—	benign
rs774371518	4:55,946,246	G/A	—	likely benign
rs56347250	4:55,946,291	A/T	—	likely benign
rs1719694866	4:55,946,307	C/A	—	uncertain significance
rs188653929	4:55,946,323	C/G	—	uncertain significance
rs139803589	4:55,946,330	A/T	—	likely benign
rs2412617	4:55,948,108	A/G	—	benign
rs762771653	4:55,948,154	C/G	—	uncertain significance
rs587778427	4:55,948,163	T/G	—	uncertain significance
rs765804235	4:55,948,181	G/A	—	uncertain significance
rs147627339	4:55,948,198	G/A	—	uncertain significance
rs776015468	4:55,948,779	C/T	—	uncertain significance
rs1215427030	4:55,948,797	T/C	—	uncertain significance
rs756332251	4:55,948,802	A/G	—	uncertain significance
rs12498529	4:55,950,198	A/T	intron variant	—
rs2125489	4:55,953,483	G/C	—	—
rs2110010059	4:55,955,025	G/A	—	likely benign
rs1312704512	4:55,955,049	C/T	—	uncertain significance
rs761176323	4:55,955,058	G/A	—	uncertain significance
rs1719936486	4:55,955,070	G/A	—	uncertain significance
rs795939488	4:55,955,080	C/T	—	uncertain significance
rs56242771	4:55,955,089	C/T	—	likely benign
rs376432705	4:55,955,100	G/C	—	uncertain significance
rs795939487	4:55,955,104	G/C	—	uncertain significance
rs121917766	4:55,955,106	G/A	missense variant	pathogenic
rs370501217	4:55,955,144	G/A	—	uncertain significance
rs1531289	4:55,955,232	T/A	—	—
rs2545269154	4:55,955,888	C/G	—	uncertain significance
rs139868970	4:55,956,125	C/T	—	uncertain significance
rs145298133	4:55,956,183	G/T	—	benign
rs36114464	4:55,956,225	C/T	—	benign
rs17709898	4:55,957,723	A/G	intron variant	—
rs1041785569	4:55,958,847	C/G	—	uncertain significance
rs1037612393	4:55,960,966	T/C	—	uncertain significance
rs759473733	4:55,961,072	A/C	—	likely benign
rs772654881	4:55,961,117	T/C	—	likely benign
rs140228618	4:55,961,818	T/C	—	likely benign
rs200773668	4:55,962,403	C/G	—	uncertain significance
rs794729678	4:55,962,419	A/T	—	uncertain significance
rs794729677	4:55,962,448	A/T	—	uncertain significance
rs587778426	4:55,962,450	T/C	—	not provided
rs794729676	4:55,962,468	G/T	—	uncertain significance
rs2545276683	4:55,962,497	T/C	—	uncertain significance
rs778886056	4:55,962,532	G/A	—	uncertain significance
rs2545277848	4:55,963,828	C/T	—	likely pathogenic
rs795939486	4:55,963,845	T/G	—	uncertain significance
rs1452361609	4:55,963,887	A/G	—	likely benign
rs2545277926	4:55,963,894	T/G	—	uncertain significance
rs795902899	4:55,963,899	C/A	—	uncertain significance
rs149901681	4:55,963,918	C/T	—	likely benign
rs6838752	4:55,964,101	T/C	intron variant	—
rs795902897	4:55,964,284	A/T	—	uncertain significance
rs768465015	4:55,964,319	C/G	—	uncertain significance
rs751712488	4:55,964,386	A/C	—	uncertain significance
rs564385300	4:55,964,430	C/T	—	uncertain significance
rs795902896	4:55,964,433	C/T	—	uncertain significance
rs1720213481	4:55,964,439	C/T	—	uncertain significance
rs193921127	4:55,964,877	C/T	—	uncertain significance
rs149745504	4:55,964,925	G/A	—	likely benign
rs587778425	4:55,964,932	C/T	—	not provided
rs1027071512	4:55,964,937	A/G	—	uncertain significance
rs566194394	4:55,964,967	G/C	—	uncertain significance
rs1870378	4:55,966,453	C/T	intron variant	—
rs6828477	4:55,966,801	C/G	—	—
rs1057524286	4:55,968,063	C/A	—	uncertain significance
rs774241378	4:55,968,072	A/T	—	uncertain significance
rs753418486	4:55,968,087	A/C	—	uncertain significance
rs147471059	4:55,968,125	G/A	—	likely benign
rs1720322781	4:55,968,148	T/C	—	uncertain significance
rs780199440	4:55,968,585	T/G	—	uncertain significance
rs34038364	4:55,968,597	G/A	—	likely benign
rs775179342	4:55,968,619	C/T	—	uncertain significance
rs139644107	4:55,968,641	C/G	—	likely benign
rs149740758	4:55,968,651	C/T	—	conflicting classifications of pathogenicity
rs17085310	4:55,970,782	G/A	—	not provided
rs1275390008	4:55,970,819	T/C	—	uncertain significance
rs759802154	4:55,970,867	C/T	—	uncertain significance
rs77722107	4:55,970,963	A/G	—	benign
rs777299134	4:55,970,978	C/G	—	uncertain significance
rs140825421	4:55,971,029	G/A	—	conflicting classifications of pathogenicity
rs766379387	4:55,971,052	G/C	—	uncertain significance
rs756721127	4:55,971,100	C/T	—	uncertain significance
rs749620473	4:55,971,123	G/T	—	uncertain significance
rs2305945	4:55,971,846	G/T	intron variant	—
rs761405036	4:55,972,005	C/T	—	uncertain significance
rs141120216	4:55,972,006	G/A	—	benign
rs1720433930	4:55,972,023	T/A	—	uncertain significance
rs1487493814	4:55,972,028	C/T	—	uncertain significance
rs55716939	4:55,972,029	C/T	—	likely benign
rs138803814	4:55,972,048	C/T	—	benign
rs1578135177	4:55,972,051	T/C	—	likely benign
rs138366069	4:55,972,069	T/C	—	benign
rs192072878	4:55,972,113	C/T	—	likely benign
rs587778424	4:55,972,897	T/A	—	uncertain significance
rs34231037	4:55,972,946	A/G	missense variant	likely benign
rs372308336	4:55,972,950	G/A	—	likely benign
rs771833921	4:55,972,972	G/T	—	uncertain significance
rs1870377	4:55,972,974	T/A	missense variant	benign
rs56286620	4:55,973,932	A/C	—	likely benign

Showing 100 of 137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.