ARVCF

ARVCF delta catenin family member

Summary

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

Known Variants176 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs165774	22:19,952,561	G/A	downstream gene variant	—
rs562735138	22:19,953,234	T/G	—	—
rs9332377	22:19,955,692	C/T	downstream gene variant	—
rs165655	22:19,957,763	G/A	regulatory region variant	—
rs165849	22:19,958,669	G/A	regulatory region variant	benign
rs72554700	22:19,958,768	C/T	—	uncertain significance
rs142907270	22:19,958,792	C/T	—	uncertain significance
rs1401865586	22:19,958,794	G/A	—	uncertain significance
rs35219372	22:19,958,811	C/A	synonymous variant	—
rs5993890	22:19,958,829	G/A	synonymous variant	benign
rs1427184716	22:19,958,837	G/A	—	uncertain significance
rs2517522823	22:19,958,843	T/C	—	uncertain significance
rs13056165	22:19,959,011	A/G	—	benign
rs12329964	22:19,959,033	G/A	—	benign
rs62223683	22:19,959,227	A/G	—	benign
rs165824	22:19,959,366	A/G	—	benign
rs774502315	22:19,959,426	C/T	—	uncertain significance
rs200129576	22:19,959,455	C/T	—	uncertain significance
rs34445280	22:19,959,456	G/A	—	benign
rs34638476	22:19,959,464	C/T	—	benign
rs165815	22:19,959,473	C/T	missense variant	benign
rs773343199	22:19,959,485	G/T	—	uncertain significance
rs534613187	22:19,959,493	G/A	—	likely benign
rs5993891	22:19,959,746	C/T	downstream gene variant	benign
rs760320413	22:19,959,883	G/T	—	uncertain significance
rs1942862328	22:19,959,902	G/A	—	uncertain significance
rs201801179	22:19,959,915	G/C	—	uncertain significance
rs114219025	22:19,959,919	C/A	—	uncertain significance
rs748044245	22:19,959,932	C/T	—	uncertain significance
rs2073744	22:19,959,955	A/G	—	benign
rs62223685	22:19,960,140	G/A	—	benign
rs71313931	22:19,960,184	C/G	—	benign
rs2518823	22:19,960,188	T/C	downstream gene variant	benign
rs71313932	22:19,960,198	G/C	—	benign
rs148244081	22:19,960,286	G/A	—	uncertain significance
rs989771328	22:19,960,302	C/A	—	uncertain significance
rs1021528226	22:19,960,346	G/C	—	uncertain significance
rs758373	22:19,960,394	A/G	—	benign
rs137940889	22:19,960,473	T/G	—	uncertain significance
rs143382568	22:19,960,485	G/A	—	uncertain significance
rs114971216	22:19,960,499	C/T	—	benign
rs115344498	22:19,960,512	A/G	—	likely benign
rs201679264	22:19,960,522	G/C	—	uncertain significance
rs1942919466	22:19,960,561	T/G	—	uncertain significance
rs2240715	22:19,960,606	G/C	—	benign
rs115736959	22:19,960,666	G/A	—	benign
rs116570619	22:19,960,722	G/A	—	benign
rs763549063	22:19,960,783	C/T	—	uncertain significance
rs12169508	22:19,961,007	G/C	—	benign
rs2240714	22:19,961,010	C/T	—	benign
rs2240713	22:19,961,101	C/T	—	benign
rs76218625	22:19,961,270	G/A	—	uncertain significance
rs550149998	22:19,961,642	T/C	—	uncertain significance
rs2517568106	22:19,961,651	C/T	—	uncertain significance
rs569906702	22:19,961,655	G/A	—	uncertain significance
rs138605057	22:19,961,673	C/T	—	uncertain significance
rs148872323	22:19,961,692	G/C	—	likely benign
rs146960902	22:19,961,730	G/A	—	uncertain significance
rs972528321	22:19,961,736	C/A	—	uncertain significance
rs78866590	22:19,961,740	G/A	—	benign
rs2239394	22:19,961,926	G/A	—	benign
rs887199	22:19,961,955	A/G	regulatory region variant	benign
rs2239395	22:19,962,203	T/G	regulatory region variant	—
rs2518824	22:19,962,963	G/T	regulatory region variant	—
rs753809266	22:19,963,256	C/T	—	uncertain significance
rs143418138	22:19,963,276	C/G	—	uncertain significance
rs73880035	22:19,963,423	C/T	—	benign
rs2240718	22:19,964,418	G/T	—	benign
rs1601590115	22:19,964,928	C/T	—	likely benign
rs763980870	22:19,964,971	C/T	—	uncertain significance
rs199865655	22:19,964,976	C/T	—	uncertain significance
rs750107043	22:19,964,983	G/A	—	uncertain significance
rs755897987	22:19,964,985	C/T	—	uncertain significance
rs199498113	22:19,964,986	G/A	—	likely benign
rs2517601425	22:19,965,012	G/A	—	uncertain significance
rs763923625	22:19,965,016	C/T	—	likely benign
rs2517603010	22:19,965,103	C/T	—	uncertain significance
rs373958610	22:19,965,495	C/T	—	uncertain significance
rs139572531	22:19,965,557	C/T	—	uncertain significance
rs754082386	22:19,965,561	G/A	—	uncertain significance
rs16982871	22:19,965,563	C/T	—	likely benign
rs200737383	22:19,965,566	C/T	—	uncertain significance
rs781214723	22:19,965,569	C/T	—	uncertain significance
rs146560850	22:19,965,595	A/G	—	likely benign
rs149132233	22:19,965,596	T/C	—	uncertain significance
rs10427781	22:19,966,320	T/C	—	benign
rs372206407	22:19,966,435	G/A	—	uncertain significance
rs778746471	22:19,966,461	G/A	—	likely benign
rs558960170	22:19,966,469	G/A	—	uncertain significance
rs76496156	22:19,966,562	C/T	—	benign
rs115020689	22:19,966,610	G/A	—	benign
rs12158201	22:19,966,749	C/T	—	benign
rs887204	22:19,967,068	A/G	—	benign
rs60067834	22:19,967,226	C/T	—	benign
rs55725132	22:19,967,248	T/C	—	benign
rs201082086	22:19,967,330	A/G	—	likely benign
rs760458676	22:19,967,353	C/T	—	uncertain significance
rs1206929916	22:19,967,383	G/T	—	uncertain significance
rs1481368559	22:19,967,397	C/A	—	uncertain significance
rs371292422	22:19,967,413	G/A	—	uncertain significance

Showing 100 of 176 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.