CRADD

CARD and death domain containing adaptor protein

Summary

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Known Variants77 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75688804012:94,072,538T/C—uncertain significance
rs143183492512:94,072,549A/G—uncertain significance
rs77266588412:94,072,552T/G—pathogenic
rs37415085512:94,072,577C/T—likely benign
rs77690255612:94,072,578C/T—uncertain significance
rs76751182112:94,072,589C/G—likely benign
rs15005913812:94,072,593G/A—uncertain significance
rs75877859412:94,072,610A/C—likely benign
rs57670994312:94,072,615T/C—uncertain significance
rs5280786912:94,072,653A/G—benign
rs14758158312:94,072,660C/T—uncertain significance
rs195522036812:94,072,662G/A—uncertain significance
rs18537565512:94,072,680A/C—likely benign
rs37611061312:94,072,684A/G—uncertain significance
rs433256612:94,072,701C/A—likely benign
rs76497973312:94,072,718C/T—likely benign
rs75105780712:94,072,744G/T—uncertain significance
rs249929434112:94,072,751A/G—likely benign
rs76802437712:94,072,754A/G—likely benign
rs37661638712:94,072,759A/T—uncertain significance
rs159287075312:94,072,761A/G—uncertain significance
rs74594963312:94,072,801A/G—uncertain significance
rs76865177112:94,072,811G/A—likely benign
rs77678046212:94,072,814G/A—likely benign
rs142867535512:94,072,826G/A—likely benign
rs76800586812:94,072,839C/G—uncertain significance
rs75325914812:94,072,846C/T—uncertain significance
rs795418512:94,096,173A/Tintron variant—
rs1702151212:94,119,818T/C——
rs1085956312:94,120,339C/Gintron variant—
rs1085956712:94,126,925T/C——
rs7336156312:94,131,813G/A—benign
rs143255043312:94,131,980A/G—likely benign
rs11407747912:94,132,007A/G—likely benign
rs653844912:94,132,057G/T—benign
rs7555571712:94,132,060T/C—benign
rs653845012:94,132,186T/A—benign
rs1077753812:94,133,284A/Gupstream gene variant—
rs72557412:94,138,432T/Cintron variant—
rs236308012:94,140,463C/A——
rs1074566112:94,159,588A/Gintron variant—
rs1110717512:94,161,719C/Tintron variant—
rs217112512:94,166,918G/C——
rs18851601712:94,175,974T/Cintron variant—
rs1077754412:94,177,727G/Cregulatory region variant—
rs1085958012:94,180,616A/Tregulatory region variant—
rs414450212:94,181,328G/C——
rs6114480312:94,235,165A/Gdownstream gene variant—
rs7539977512:94,243,671C/T—benign
rs36977128512:94,243,728T/G—likely benign
rs254063525112:94,243,761G/T—uncertain significance
rs19984672712:94,243,763A/T—uncertain significance
rs55756642612:94,243,765C/T—likely benign
rs18428562412:94,243,789C/T—benign
rs38790686112:94,243,829G/Cmissense variantpathogenic
rs254063537412:94,243,840G/A—pathogenic
rs195819448212:94,243,850G/T—uncertain significance
rs5694466812:94,243,853T/C—benign
rs20146611612:94,243,875C/T—likely benign
rs20063219712:94,243,876G/A—likely benign
rs77458072412:94,243,912C/T—likely benign
rs195819780412:94,243,935C/T—uncertain significance
rs37091696812:94,243,938T/Gmissense variantpathogenic
rs74668503512:94,243,944G/A—uncertain significance
rs75469482612:94,243,945T/C—likely benign
rs75970674312:94,243,949C/T—uncertain significance
rs56387962612:94,243,950G/A—uncertain significance
rs74965546112:94,243,955C/Tmissense variantpathogenic
rs14117977412:94,243,956G/Amissense variantpathogenic
rs156593896212:94,243,978C/T—likely benign
rs54415944012:94,243,993C/T—likely benign
rs7336525812:94,244,001G/A—benign
rs53297511412:94,244,022C/T—likely benign
rs195820115312:94,244,036A/G—uncertain significance
rs11631628912:94,244,044G/A—likely benign
rs730171412:94,275,217G/A——
rs254066100712:94,287,895C/T—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.