CXCR4

C-X-C motif chemokine receptor 4

Summary

This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants139 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs750756138	2:136,872,444	T/C	—	uncertain significance
rs1573613407	2:136,872,456	T/C	—	uncertain significance
rs758871604	2:136,872,466	A/G	—	likely benign
rs104893625	2:136,872,471	C/A	stop gained	pathogenic
rs2104915514	2:136,872,472	A/G	—	likely benign
rs148454403	2:136,872,476	G/T	—	uncertain significance
rs104893626	2:136,872,485	G/C	stop gained	pathogenic
rs1338871737	2:136,872,487	A/C	—	uncertain significance
rs755102336	2:136,872,490	T/C	—	conflicting classifications of pathogenicity
rs2104915575	2:136,872,492	C/A	—	pathogenic
rs147214773	2:136,872,495	C/T	missense variant	uncertain significance
rs748189454	2:136,872,497	C/G	—	uncertain significance
rs104893624	2:136,872,498	G/A	stop gained	pathogenic
rs1240625960	2:136,872,504	C/A	—	pathogenic
rs777888690	2:136,872,514	G/A	—	likely benign
rs1684840650	2:136,872,525	T/C	—	uncertain significance
rs1684840909	2:136,872,531	C/T	—	uncertain significance
rs745632311	2:136,872,534	T/C	—	uncertain significance
rs1443118787	2:136,872,540	C/G	—	uncertain significance
rs2467263278	2:136,872,541	A/C	—	likely benign
rs145335491	2:136,872,552	C/T	—	benign
rs144110709	2:136,872,553	G/A	—	likely benign
rs1350792475	2:136,872,565	G/C	—	likely benign
rs1684843543	2:136,872,570	T/C	—	uncertain significance
rs776152740	2:136,872,586	G/A	—	likely benign
rs1684844700	2:136,872,597	G/A	—	uncertain significance
rs2467263465	2:136,872,614	C/T	—	uncertain significance
rs2104915846	2:136,872,627	C/T	—	uncertain significance
rs1573613626	2:136,872,628	T/C	—	likely benign
rs1034031817	2:136,872,633	C/T	—	uncertain significance
rs750087956	2:136,872,636	C/T	—	likely benign
rs535778934	2:136,872,637	G/A	—	likely benign
rs980319409	2:136,872,655	G/A	—	likely benign
rs2104915918	2:136,872,667	C/G	—	uncertain significance
rs751975722	2:136,872,672	A/T	—	uncertain significance
rs2104915939	2:136,872,684	G/A	—	uncertain significance
rs2104915971	2:136,872,694	T/A	—	uncertain significance
rs781570700	2:136,872,700	G/A	—	likely benign
rs960174502	2:136,872,703	G/A	—	likely benign
rs1173681265	2:136,872,712	G/T	—	uncertain significance
rs148279552	2:136,872,715	G/A	—	benign
rs2104916053	2:136,872,746	C/A	—	uncertain significance
rs771851938	2:136,872,750	C/T	—	likely benign
rs779760942	2:136,872,751	G/T	—	uncertain significance
rs762937679	2:136,872,771	T/G	—	uncertain significance
rs199713103	2:136,872,790	C/T	—	likely benign
rs377287446	2:136,872,794	C/T	—	conflicting classifications of pathogenicity
rs1419294193	2:136,872,801	G/A	—	uncertain significance
rs1684850384	2:136,872,803	T/C	—	uncertain significance
rs180746866	2:136,872,822	G/A	—	likely benign
rs1684851586	2:136,872,837	T/G	—	uncertain significance
rs2104916277	2:136,872,838	G/A	—	likely benign
rs756207760	2:136,872,845	C/G	—	uncertain significance
rs1406988415	2:136,872,848	G/T	—	uncertain significance
rs2104916486	2:136,872,874	A/G	—	likely benign
rs748098105	2:136,872,912	C/T	—	uncertain significance
rs1447178923	2:136,872,914	C/T	—	uncertain significance
rs769772228	2:136,872,916	C/G	—	conflicting classifications of pathogenicity
rs148190725	2:136,872,923	T/C	—	conflicting classifications of pathogenicity
rs2104916956	2:136,872,938	T/C	—	likely benign
rs770667555	2:136,872,946	A/G	—	likely benign
rs774186681	2:136,872,947	T/C	—	uncertain significance
rs1684855376	2:136,872,949	T/C	—	likely benign
rs767830104	2:136,872,969	C/T	—	benign
rs113338664	2:136,872,970	G/A	—	likely benign
rs2467265013	2:136,872,980	A/G	—	uncertain significance
rs764678610	2:136,872,982	G/T	—	uncertain significance
rs199535487	2:136,872,987	C/T	—	benign
rs371317659	2:136,872,992	A/G	—	uncertain significance
rs2104917313	2:136,872,994	A/T	—	likely benign
rs765419581	2:136,872,997	C/T	—	likely benign
rs147198552	2:136,873,020	C/T	—	uncertain significance
rs1259138331	2:136,873,021	G/A	—	likely benign
rs910532454	2:136,873,023	C/T	—	uncertain significance
rs780780627	2:136,873,025	A/G	—	likely benign
rs1553457905	2:136,873,040	T/G	—	uncertain significance
rs1160274529	2:136,873,045	C/T	—	likely benign
rs374115177	2:136,873,054	C/T	—	likely benign
rs2104917730	2:136,873,060	C/T	—	likely benign
rs542113929	2:136,873,061	C/T	—	uncertain significance
rs748839679	2:136,873,076	G/A	—	uncertain significance
rs774159824	2:136,873,078	G/A	—	likely benign
rs1451071577	2:136,873,083	C/T	—	uncertain significance
rs2228014	2:136,873,084	G/A	synonymous variant	benign
rs2104917808	2:136,873,096	G/T	—	likely benign
rs771750319	2:136,873,104	G/C	—	uncertain significance
rs1001278766	2:136,873,125	G/C	—	likely benign
rs1042544321	2:136,873,135	G/A	—	likely benign
rs1051557	2:136,873,153	G/C	missense variant	uncertain significance
rs2467265953	2:136,873,156	G/T	—	likely benign
rs1684862940	2:136,873,160	T/G	—	uncertain significance
rs765237875	2:136,873,191	A/G	—	likely benign
rs2467266044	2:136,873,193	C/T	—	uncertain significance
rs755899324	2:136,873,203	C/T	—	benign
rs142289207	2:136,873,204	G/A	—	likely benign
rs2104917984	2:136,873,216	C/T	—	uncertain significance
rs2467266152	2:136,873,220	A/G	—	uncertain significance
rs1025484081	2:136,873,225	A/G	—	likely benign
rs753770848	2:136,873,228	C/T	—	likely benign
rs756830956	2:136,873,229	G/A	—	uncertain significance

Showing 100 of 139 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.