DDR2

discoidin domain receptor tyrosine kinase 2

Summary

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

Known Variants326 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1269391862	1:162,602,295	C/T	—	uncertain significance
rs944192097	1:162,602,355	G/A	—	uncertain significance
rs1028218034	1:162,602,366	G/A	—	uncertain significance
rs1656610008	1:162,602,392	C/T	—	uncertain significance
rs2292335	1:162,602,394	T/C	—	uncertain significance
rs10494373	1:162,619,362	A/C	intron variant	—
rs542849168	1:162,625,086	G/T	—	uncertain significance
rs7521233	1:162,649,471	C/T	intron variant	—
rs6697469	1:162,658,773	C/G	intron variant	—
rs7553831	1:162,661,011	T/G	regulatory region variant	—
rs79571229	1:162,661,893	G/A	intron variant	—
rs12083612	1:162,688,621	A/G	—	benign
rs115745670	1:162,688,634	T/C	—	likely benign
rs16843907	1:162,688,681	G/A	—	likely benign
rs77271520	1:162,688,809	A/G	—	likely benign
rs180854216	1:162,688,816	G/C	—	uncertain significance
rs369864432	1:162,688,855	T/G	—	uncertain significance
rs775402435	1:162,688,881	G/A	—	uncertain significance
rs1661296526	1:162,688,910	T/C	—	likely benign
rs1411228765	1:162,688,932	C/T	—	uncertain significance
rs1558044285	1:162,688,944	G/A	—	likely benign
rs187456948	1:162,722,650	C/T	—	likely benign
rs191037278	1:162,722,756	A/G	—	likely benign
rs1632311	1:162,722,846	C/G	—	benign
rs2102127602	1:162,722,868	G/C	—	likely benign
rs1279760492	1:162,722,870	T/A	—	likely benign
rs76156815	1:162,722,881	C/T	—	likely benign
rs775988877	1:162,722,887	A/C	—	uncertain significance
rs761583917	1:162,722,893	C/T	—	uncertain significance
rs1663295489	1:162,722,902	C/A	—	uncertain significance
rs2526792639	1:162,722,905	G/A	—	uncertain significance
rs757544947	1:162,722,911	T/A	—	uncertain significance
rs2102127865	1:162,722,922	G/T	—	uncertain significance
rs765197646	1:162,722,961	A/G	—	likely benign
rs372247260	1:162,723,006	A/G	—	likely benign
rs881127	1:162,723,162	T/C	—	benign
rs76245344	1:162,724,145	T/G	—	likely benign
rs150858659	1:162,724,316	C/T	—	likely benign
rs766633413	1:162,724,405	C/T	—	likely benign
rs144594252	1:162,724,415	C/G	missense variant	uncertain significance
rs374552736	1:162,724,417	G/C	—	likely benign
rs1261100286	1:162,724,418	G/T	—	uncertain significance
rs2102132359	1:162,724,420	C/A	—	uncertain significance
rs2102132581	1:162,724,443	G/T	—	uncertain significance
rs547548695	1:162,724,447	C/T	—	likely benign
rs138537887	1:162,724,471	T/A	—	conflicting classifications of pathogenicity
rs747479847	1:162,724,475	C/G	—	uncertain significance
rs2102133273	1:162,724,502	C/T	—	uncertain significance
rs1212499835	1:162,724,526	G/T	—	uncertain significance
rs1571295034	1:162,724,534	C/A	—	likely benign
rs1663374009	1:162,724,538	G/C	—	uncertain significance
rs759709680	1:162,724,541	C/A	—	uncertain significance
rs146276174	1:162,724,564	C/T	—	likely benign
rs397514747	1:162,724,565	G/A	missense variant	pathogenic
rs886043539	1:162,724,585	G/A	—	uncertain significance
rs1298716106	1:162,724,608	C/T	—	uncertain significance
rs149507401	1:162,724,611	G/A	—	uncertain significance
rs757919179	1:162,724,625	C/T	—	uncertain significance
rs879065950	1:162,724,626	G/A	—	uncertain significance
rs2271305	1:162,724,636	T/C	—	conflicting classifications of pathogenicity
rs774724797	1:162,724,645	G/A	—	uncertain significance
rs2102135193	1:162,724,646	G/T	—	likely pathogenic
rs2102135297	1:162,724,658	G/C	—	likely benign
rs2102135308	1:162,724,659	A/C	—	likely benign
rs139636069	1:162,724,792	G/T	—	likely benign
rs748670636	1:162,724,934	C/T	—	uncertain significance
rs756623313	1:162,724,946	G/T	—	uncertain significance
rs1188435532	1:162,724,949	C/T	—	conflicting classifications of pathogenicity
rs1176971781	1:162,724,956	G/A	—	uncertain significance
rs1411758408	1:162,724,959	A/G	—	uncertain significance
rs201150529	1:162,724,965	A/G	—	uncertain significance
rs2102136516	1:162,724,968	C/T	—	uncertain significance
rs774706415	1:162,724,972	T/C	—	likely benign
rs146062699	1:162,724,975	C/T	—	likely benign
rs1291613281	1:162,724,987	G/T	—	uncertain significance
rs760839128	1:162,724,998	C/T	—	uncertain significance
rs374094270	1:162,724,999	G/A	—	likely benign
rs145611112	1:162,725,004	T/C	—	uncertain significance
rs200233661	1:162,725,022	G/A	—	uncertain significance
rs2526810919	1:162,725,035	C/T	—	likely benign
rs201573606	1:162,725,036	A/T	—	conflicting classifications of pathogenicity
rs56313008	1:162,725,038	C/T	—	conflicting classifications of pathogenicity
rs149052593	1:162,725,040	A/G	—	uncertain significance
rs202091759	1:162,725,046	C/G	—	uncertain significance
rs1384006128	1:162,725,048	A/G	—	uncertain significance
rs2102137137	1:162,725,068	G/T	—	likely benign
rs369267630	1:162,725,077	C/T	—	conflicting classifications of pathogenicity
rs2526811497	1:162,725,094	G/A	—	likely pathogenic
rs889257496	1:162,725,466	C/A	—	uncertain significance
rs190639601	1:162,725,579	A/T	—	benign
rs1115570	1:162,725,655	A/C	—	benign
rs147711199	1:162,726,968	T/C	intron variant	—
rs113207496	1:162,729,468	C/T	—	likely benign
rs376919678	1:162,729,577	C/A	—	conflicting classifications of pathogenicity
rs1270686569	1:162,729,591	C/G	—	uncertain significance
rs56351141	1:162,729,613	T/C	—	conflicting classifications of pathogenicity
rs1381891916	1:162,729,618	G/T	—	uncertain significance
rs578015216	1:162,729,630	T/G	missense variant	uncertain significance
rs141801107	1:162,729,634	C/T	—	conflicting classifications of pathogenicity
rs2102149743	1:162,729,635	G/A	—	uncertain significance

Showing 100 of 326 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.