GGCX

gamma-glutamyl carboxylase

Summary

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Known Variants405 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs759788569	2:85,772,162	A/T	—	uncertain significance
rs867667606	2:85,772,209	G/A	—	uncertain significance
rs149495444	2:85,772,217	A/G	—	benign
rs953351844	2:85,772,259	C/T	—	uncertain significance
rs886056356	2:85,772,313	G/A	—	uncertain significance
rs377381751	2:85,772,331	T/G	—	likely benign
rs1484208583	2:85,772,337	C/T	—	uncertain significance
rs949866556	2:85,772,376	C/T	—	uncertain significance
rs138686161	2:85,772,478	C/T	—	benign
rs113066451	2:85,772,495	C/T	—	uncertain significance
rs575528704	2:85,772,519	T/C	—	uncertain significance
rs7605975	2:85,772,548	C/T	—	benign
rs1691612144	2:85,772,582	A/G	—	uncertain significance
rs62165899	2:85,772,628	C/T	—	benign
rs144074011	2:85,772,644	A/G	—	uncertain significance
rs564820085	2:85,772,660	C/T	—	uncertain significance
rs550873302	2:85,772,691	G/A	—	uncertain significance
rs530247310	2:85,772,743	A/G	—	likely benign
rs886056357	2:85,772,769	C/G	—	uncertain significance
rs754152731	2:85,772,815	G/C	—	uncertain significance
rs886056358	2:85,772,842	C/T	—	uncertain significance
rs536985458	2:85,772,862	A/C	—	uncertain significance
rs866533240	2:85,772,979	C/T	—	uncertain significance
rs189391524	2:85,773,010	A/G	—	uncertain significance
rs12473819	2:85,773,061	A/G	—	benign
rs1046049435	2:85,773,127	A/G	—	uncertain significance
rs886056359	2:85,773,133	T/C	—	uncertain significance
rs886056360	2:85,773,136	C/T	—	uncertain significance
rs58540395	2:85,773,182	G/A	—	benign
rs986672098	2:85,773,216	A/T	—	uncertain significance
rs12470957	2:85,773,252	T/C	—	benign
rs141040739	2:85,773,287	A/G	—	conflicting classifications of pathogenicity
rs886056361	2:85,773,300	A/G	—	uncertain significance
rs766023039	2:85,773,301	T/C	—	uncertain significance
rs72643495	2:85,773,305	C/T	—	benign
rs375566923	2:85,773,353	C/T	—	uncertain significance
rs1691656620	2:85,773,354	G/A	—	uncertain significance
rs541759232	2:85,773,410	T/C	—	uncertain significance
rs886056362	2:85,773,413	C/G	—	uncertain significance
rs886056363	2:85,773,427	T/A	—	uncertain significance
rs535142816	2:85,773,451	C/T	—	benign
rs748992023	2:85,773,473	G/A	—	uncertain significance
rs1019659963	2:85,773,476	G/A	—	uncertain significance
rs886056364	2:85,773,540	A/G	—	uncertain significance
rs72940569	2:85,773,626	G/A	—	benign
rs6704863	2:85,773,641	C/T	—	benign
rs35416445	2:85,773,659	A/G	—	benign
rs868109874	2:85,773,664	G/A	—	uncertain significance
rs563109158	2:85,773,788	T/C	—	uncertain significance
rs150878929	2:85,773,865	G/A	—	uncertain significance
rs1324933410	2:85,773,880	A/C	—	uncertain significance
rs72843835	2:85,773,986	A/G	—	benign
rs139304933	2:85,773,990	A/G	—	likely benign
rs150020679	2:85,774,004	T/C	—	benign
rs34669893	2:85,774,010	C/T	—	benign
rs190910259	2:85,774,057	T/C	—	uncertain significance
rs72843836	2:85,774,083	C/T	—	benign
rs1340998302	2:85,774,092	G/T	—	uncertain significance
rs76606353	2:85,774,108	G/A	—	benign
rs188039599	2:85,774,132	C/G	—	uncertain significance
rs146540264	2:85,774,165	T/G	—	uncertain significance
rs190959810	2:85,774,235	G/A	—	likely benign
rs118153916	2:85,774,246	A/G	—	likely benign
rs140009094	2:85,774,283	T/C	—	uncertain significance
rs1184420625	2:85,774,317	T/G	—	uncertain significance
rs901180216	2:85,774,341	T/C	—	uncertain significance
rs886056365	2:85,774,410	A/G	—	uncertain significance
rs886056366	2:85,774,497	T/C	—	uncertain significance
rs574322048	2:85,774,567	A/G	—	uncertain significance
rs556052128	2:85,774,649	A/G	—	uncertain significance
rs6547621	2:85,774,676	G/A	—	benign
rs886056367	2:85,774,753	A/G	—	uncertain significance
rs886056368	2:85,774,758	G/A	—	uncertain significance
rs553827130	2:85,774,772	A/T	—	uncertain significance
rs572084939	2:85,774,773	G/C	—	uncertain significance
rs1002400857	2:85,774,831	G/A	—	uncertain significance
rs886056369	2:85,774,997	A/G	—	uncertain significance
rs113958713	2:85,775,092	C/A	—	benign
rs192730155	2:85,775,141	G/A	—	likely benign
rs886056370	2:85,775,238	T/G	—	uncertain significance
rs114386392	2:85,775,330	T/C	—	uncertain significance
rs184184818	2:85,775,332	G/T	—	uncertain significance
rs187452629	2:85,775,336	C/T	—	uncertain significance
rs557850002	2:85,775,345	T/G	—	uncertain significance
rs143548117	2:85,775,359	T/C	—	uncertain significance
rs1177037435	2:85,775,371	G/C	—	uncertain significance
rs140768153	2:85,775,453	C/T	—	uncertain significance
rs559519177	2:85,775,690	G/T	—	uncertain significance
rs757965941	2:85,775,733	A/G	—	uncertain significance
rs574843893	2:85,775,775	C/T	—	likely benign
rs60864851	2:85,775,780	C/T	—	likely benign
rs190566964	2:85,775,812	C/G	—	uncertain significance
rs886056372	2:85,775,871	T/C	—	uncertain significance
rs1297390996	2:85,775,912	C/T	—	uncertain significance
rs13406935	2:85,776,008	A/T	—	benign
rs184378248	2:85,776,020	T/C	—	uncertain significance
rs545427723	2:85,776,038	C/G	—	uncertain significance
rs1691798044	2:85,776,084	T/C	—	uncertain significance
rs78372899	2:85,776,095	C/G	—	likely benign
rs6723678	2:85,776,155	A/G	—	benign

Showing 100 of 405 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.