NRCAM

neuronal cell adhesion molecule

Summary

Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants131 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3728836327:107,790,381C/Tuncertain significance
rs747086997:107,790,417C/Tbenign
rs7776093447:107,790,486C/Auncertain significance
rs3703478347:107,790,488C/Tuncertain significance
rs25364177757:107,790,503A/Guncertain significance
rs4833527097:107,790,506A/Cuncertain significance
rs620010387:107,790,526T/Cbenign
rs7535643647:107,790,554C/Tuncertain significance
rs7597792067:107,790,577G/Tuncertain significance
rs1432246797:107,797,354T/Cregulatory region variant
rs1458281127:107,799,979T/Clikely benign
rs12248111387:107,800,798T/Clikely benign
rs25380291267:107,800,817C/Tuncertain significance
rs20481857637:107,800,866G/Auncertain significance
rs12476140277:107,800,904T/Cuncertain significance
rs7602221167:107,800,914T/Auncertain significance
rs3753391087:107,800,926G/Auncertain significance
rs14289678557:107,807,422C/Auncertain significance
rs3743381917:107,807,479C/Tuncertain significance
rs2008008517:107,807,482G/Auncertain significance
rs15859612537:107,808,769T/Guncertain significance
rs1821137267:107,808,776C/Tuncertain significance
rs1500733227:107,812,961G/A
rs1496396547:107,817,029G/Alikely benign
rs1444127127:107,817,031C/Tuncertain significance
rs13966822747:107,818,453T/Cuncertain significance
rs1438050557:107,818,484C/Tlikely benign
rs8999884017:107,818,507G/Auncertain significance
rs20616349237:107,818,542G/Auncertain significance
rs1998674327:107,820,723T/Cuncertain significance
rs21532755387:107,820,733G/Apathogenic
rs3777072747:107,820,771G/Auncertain significance
rs7492206277:107,820,773C/Auncertain significance
rs20627772747:107,820,780C/Tpathogenic
rs1396340647:107,820,813T/Guncertain significance
rs14883161757:107,820,817T/Cuncertain significance
rs347213837:107,820,819T/Clikely benign
rs1510299267:107,820,828C/Tuncertain significance
rs12989794457:107,820,873T/Cpathogenic
rs7461612927:107,822,267C/Tuncertain significance
rs14902266097:107,822,303G/Cuncertain significance
rs8673720717:107,822,331A/Cuncertain significance
rs7582271367:107,822,340T/Clikely benign
rs1409602507:107,822,351A/Guncertain significance
rs5572945097:107,822,354C/Tlikely benign
rs1503736897:107,822,355G/Auncertain significance
rs5537483147:107,822,376T/Cuncertain significance
rs21423257:107,822,396G/Abenign
rs13987441547:107,823,150G/Auncertain significance
rs2015341227:107,823,258G/Cuncertain significance
rs7758491447:107,824,692G/Auncertain significance
rs1459976357:107,824,700C/Tlikely benign
rs20654777337:107,824,893T/Auncertain significance
rs3723959607:107,824,917C/Tuncertain significance
rs7511203207:107,824,969G/Tuncertain significance
rs5304211557:107,825,020C/Auncertain significance
rs15869483547:107,825,041C/Tuncertain significance
rs10313283727:107,825,051G/Tlikely benign
rs1806978307:107,825,066C/Tlikely benign
rs1116160507:107,830,092T/Clikely benign
rs1442867167:107,832,220T/Cuncertain significance
rs1124659847:107,832,232G/Auncertain significance
rs1422747027:107,834,476A/Glikely benign
rs69584987:107,834,613C/Gbenign
rs69783157:107,834,624T/Cbenign
rs15633686397:107,834,731C/Guncertain significance
rs4042877:107,834,734C/Tbenign
rs3743832797:107,834,760C/Auncertain significance
rs7791924267:107,834,789T/Auncertain significance
rs7543069047:107,834,806C/Guncertain significance
rs1164997897:107,834,852C/Tuncertain significance
rs1430369977:107,834,856C/Tuncertain significance
rs7635766037:107,834,859T/Guncertain significance
rs1381464617:107,836,209C/Tuncertain significance
rs7713589307:107,836,215T/Cuncertain significance
rs2010335397:107,836,262T/Cpathogenic
rs1158914797:107,836,311G/Clikely benign
rs25449510397:107,838,427G/Cuncertain significance
rs25449530647:107,838,439A/Guncertain significance
rs5592094467:107,838,537G/Auncertain significance
rs1423664527:107,848,032T/Gbenign
rs7481739967:107,848,100G/Auncertain significance
rs2005689817:107,848,103G/Auncertain significance
rs5470146297:107,849,861A/Gbenign
rs10111556657:107,849,882A/Guncertain significance
rs13953067907:107,849,961T/Guncertain significance
rs1399229497:107,866,089C/Tmissense variant
rs20934263667:107,866,687T/Auncertain significance
rs7596010357:107,866,702T/Auncertain significance
rs25472490807:107,866,729T/Auncertain significance
rs7528889537:107,866,733C/Tuncertain significance
rs7644753227:107,866,735C/Tuncertain significance
rs25472515807:107,866,768A/Cuncertain significance
rs7729937037:107,866,783C/Tpathogenic
rs7467769227:107,866,787G/Cuncertain significance
rs11809449017:107,866,804T/Cuncertain significance
rs8957224187:107,871,520G/Auncertain significance
rs21537411767:107,872,797A/Gconflicting classifications of pathogenicity
rs20944428127:107,872,835T/Auncertain significance
rs1407702747:107,872,866C/Apathogenic

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.