SEC24D

SEC24 homolog D, COPII component

Summary

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Known Variants403 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79586191	4:119,644,498	T/C	—	likely benign
rs193163880	4:119,644,695	T/C	—	uncertain significance
rs770678083	4:119,644,706	A/C	—	uncertain significance
rs2110420681	4:119,644,710	A/T	—	uncertain significance
rs532948364	4:119,644,717	C/T	—	uncertain significance
rs767084708	4:119,644,721	A/G	—	likely benign
rs760670617	4:119,644,725	G/A	missense variant	pathogenic
rs763992910	4:119,644,728	G/A	—	uncertain significance
rs972376639	4:119,644,734	C/G	—	uncertain significance
rs753623656	4:119,644,735	C/T	—	uncertain significance
rs1725254711	4:119,644,755	A/C	—	uncertain significance
rs2110420793	4:119,644,757	C/G	—	likely benign
rs750677983	4:119,644,767	C/T	—	uncertain significance
rs199875582	4:119,644,776	A/G	—	uncertain significance
rs2110420831	4:119,644,786	G/A	—	pathogenic
rs747116300	4:119,644,791	C/T	—	uncertain significance
rs769202646	4:119,644,792	G/A	—	pathogenic
rs1725258764	4:119,644,804	T/C	—	uncertain significance
rs1469888598	4:119,644,815	G/A	—	likely benign
rs759230116	4:119,644,821	A/C	—	likely benign
rs2530046638	4:119,644,823	A/T	—	likely benign
rs58916284	4:119,644,826	C/A	—	likely benign
rs58619091	4:119,645,098	G/C	—	likely benign
rs112278662	4:119,649,593	A/C	—	benign
rs781744895	4:119,649,709	T/C	—	likely benign
rs770216170	4:119,649,721	T/C	—	uncertain significance
rs986757134	4:119,649,728	T/C	—	likely benign
rs786204846	4:119,649,741	T/G	missense variant	pathogenic
rs1333226200	4:119,649,773	A/G	—	likely benign
rs773055266	4:119,649,794	A/G	—	likely benign
rs766602456	4:119,649,802	A/G	—	likely benign
rs201005070	4:119,649,805	T/C	—	likely benign
rs11722833	4:119,652,354	T/C	—	benign
rs2110430211	4:119,652,472	A/G	—	uncertain significance
rs112121576	4:119,652,475	T/C	—	uncertain significance
rs1195556657	4:119,652,487	T/A	—	uncertain significance
rs146754256	4:119,652,489	T/C	—	likely benign
rs1175597762	4:119,652,497	A/G	—	uncertain significance
rs200473197	4:119,652,519	G/C	—	likely benign
rs79301273	4:119,652,555	G/A	—	likely benign
rs1725678074	4:119,652,560	T/C	—	uncertain significance
rs199764116	4:119,652,563	G/A	—	uncertain significance
rs777728638	4:119,652,576	C/T	—	likely benign
rs1333781972	4:119,652,587	T/C	—	uncertain significance
rs770700165	4:119,652,592	T/C	—	uncertain significance
rs925931834	4:119,652,596	C/G	—	uncertain significance
rs150351420	4:119,652,605	G/A	—	uncertain significance
rs76459466	4:119,652,606	G/T	synonymous variant	benign
rs1182434832	4:119,652,616	C/T	—	pathogenic
rs754315464	4:119,652,623	C/T	—	uncertain significance
rs762216451	4:119,652,624	G/A	—	likely benign
rs944662090	4:119,652,639	T/A	—	likely benign
rs149063473	4:119,652,658	G/A	—	conflicting classifications of pathogenicity
rs2530060074	4:119,652,672	C/T	—	likely benign
rs149598210	4:119,652,683	G/C	—	likely benign
rs114860709	4:119,652,828	C/T	—	likely benign
rs139254700	4:119,652,926	A/T	—	likely benign
rs2046779	4:119,653,822	G/C	—	benign
rs374807511	4:119,653,870	C/T	—	likely benign
rs2530062382	4:119,653,877	A/G	—	likely benign
rs892989599	4:119,653,891	G/A	—	likely benign
rs201766693	4:119,653,914	A/G	—	uncertain significance
rs1725756791	4:119,653,939	G/T	—	likely benign
rs201125975	4:119,653,950	G/A	—	likely benign
rs2530062553	4:119,653,955	C/G	—	uncertain significance
rs1455251047	4:119,653,968	G/A	—	likely pathogenic
rs1272242956	4:119,653,979	G/A	—	uncertain significance
rs375393177	4:119,653,988	G/A	—	uncertain significance
rs138684864	4:119,653,998	G/T	—	uncertain significance
rs2530062632	4:119,654,000	A/G	—	uncertain significance
rs142692250	4:119,654,001	G/C	—	conflicting classifications of pathogenicity
rs1725761381	4:119,654,004	C/G	—	uncertain significance
rs34510328	4:119,654,028	T/C	—	likely benign
rs76658950	4:119,654,036	G/A	—	likely benign
rs1725766195	4:119,654,052	A/C	—	uncertain significance
rs1578377278	4:119,654,059	T/C	—	likely benign
rs1725767044	4:119,654,061	G/C	—	uncertain significance
rs2530062808	4:119,654,075	A/G	—	uncertain significance
rs13146440	4:119,659,144	A/G	—	benign
rs13146816	4:119,659,180	C/T	—	benign
rs7653962	4:119,659,284	T/A	—	benign
rs10032804	4:119,659,321	G/A	—	benign
rs183110720	4:119,659,385	C/T	—	likely benign
rs754665414	4:119,659,404	T/C	—	likely benign
rs1578383414	4:119,659,416	C/A	—	pathogenic
rs1275097496	4:119,659,447	T/C	—	uncertain significance
rs922274399	4:119,659,450	C/T	—	uncertain significance
rs771020078	4:119,659,451	G/A	—	uncertain significance
rs1726065480	4:119,659,454	A/T	—	uncertain significance
rs2110437854	4:119,659,474	G/A	—	uncertain significance
rs1252674432	4:119,659,485	T/C	—	likely benign
rs148390890	4:119,659,496	G/A	—	uncertain significance
rs1378455547	4:119,659,499	T/A	—	uncertain significance
rs1216285184	4:119,659,502	C/T	—	uncertain significance
rs2530071889	4:119,659,510	G/C	—	uncertain significance
rs1726069527	4:119,659,511	G/A	—	uncertain significance
rs756913046	4:119,659,515	G/A	—	likely benign
rs1128403	4:119,659,518	G/A	—	benign
rs773021505	4:119,659,529	T/G	—	uncertain significance
rs2530071987	4:119,659,538	C/T	—	likely benign

Showing 100 of 403 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.