DDRGK1

DDRGK domain containing 1

Summary

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]

Known Variants109 total

rsidPosition (GRCh37)AllelesClassClinVar
rs123850280220:3,171,308G/A—likely benign
rs76590669020:3,171,327C/T—likely benign
rs1159120:3,171,337T/C—benign
rs75689081620:3,171,338G/A—likely benign
rs78089987920:3,171,340T/C—uncertain significance
rs132032542720:3,171,361C/T—uncertain significance
rs77223932120:3,171,368G/A—likely benign
rs77318545720:3,171,370C/T—uncertain significance
rs134556125120:3,171,373T/C—uncertain significance
rs76339286920:3,171,382G/A—uncertain significance
rs75021486020:3,171,397T/A—uncertain significance
rs77994308920:3,171,408A/G—uncertain significance
rs139964714420:3,171,409C/T—uncertain significance
rs14224834720:3,171,410G/A—likely benign
rs131948881820:3,171,421C/T—uncertain significance
rs77127710620:3,171,433T/C—uncertain significance
rs78160975320:3,171,451G/A—uncertain significance
rs147888496920:3,171,468G/T—uncertain significance
rs18557098420:3,171,482G/A—likely benign
rs77014675820:3,171,871C/T—uncertain significance
rs15128042920:3,171,872G/A—uncertain significance
rs93458543220:3,171,887A/G—uncertain significance
rs76128920120:3,171,894G/A—likely benign
rs138277676820:3,171,897C/G—likely benign
rs37041843720:3,171,900C/T—likely benign
rs77543044620:3,172,396C/A—likely benign
rs54409485020:3,172,418C/T—uncertain significance
rs52796047520:3,172,433G/A—uncertain significance
rs37756532920:3,172,438C/T—likely benign
rs212222814120:3,172,473A/G—likely benign
rs78078925020:3,172,475A/G—likely benign
rs19965824420:3,172,478A/G—likely benign
rs37101851220:3,172,481G/A—likely benign
rs77541196620:3,172,483G/C—likely benign
rs7307507520:3,172,490A/Gintron variant—
rs7307683620:3,172,647T/C——
rs14988273920:3,175,457C/T—likely benign
rs76541161420:3,175,533C/G—likely benign
rs14762295220:3,175,900C/G—uncertain significance
rs14216897320:3,175,903C/T—likely benign
rs76435812620:3,175,905C/T—uncertain significance
rs76228062220:3,175,927C/A—uncertain significance
rs251438172620:3,175,944T/C—uncertain significance
rs75671846920:3,175,953T/C—uncertain significance
rs77914957620:3,175,960G/A—uncertain significance
rs77869039420:3,175,974T/C—uncertain significance
rs7389112320:3,175,976G/A—benign
rs13887776120:3,175,988C/T—likely benign
rs55179379820:3,175,991C/T—benign
rs206700569920:3,175,992T/C—uncertain significance
rs251438184620:3,176,007C/T—likely benign
rs229555220:3,176,009T/C—benign
rs4128184620:3,180,633A/G—benign
rs77369846120:3,180,635G/C—likely benign
rs206702852520:3,180,636G/A—likely benign
rs160047594120:3,180,645A/C—likely pathogenic
rs127201915020:3,180,653C/T—likely benign
rs97790818920:3,180,663A/G—uncertain significance
rs3532749120:3,180,666C/A—uncertain significance
rs75709359720:3,180,672C/T—uncertain significance
rs119461314820:3,180,677C/T—likely benign
rs75032317120:3,180,683C/T—likely benign
rs14797677520:3,180,685T/G—uncertain significance
rs20135456220:3,180,701G/A—likely benign
rs37616509020:3,180,703G/A—uncertain significance
rs4128184820:3,180,713G/A—likely benign
rs77506510220:3,180,717C/T—uncertain significance
rs251438595820:3,180,720T/G—uncertain significance
rs14291402520:3,180,723C/T—uncertain significance
rs7951266620:3,180,724G/A—benign
rs19057440420:3,180,732C/G—uncertain significance
rs251438601020:3,180,754G/C—likely benign
rs55315679320:3,180,972C/G—benign
rs4128185220:3,180,973A/C—benign
rs105588315820:3,180,980C/T—likely benign
rs132586943420:3,180,987C/T—pathogenic
rs13995881420:3,180,990C/T—uncertain significance
rs101158935720:3,181,005G/A—pathogenic
rs54208057820:3,181,007G/C—uncertain significance
rs75684805920:3,181,028C/T—uncertain significance
rs136245050120:3,181,031A/G—uncertain significance
rs14850283620:3,181,069C/T—likely benign
rs74681096620:3,181,080C/T—uncertain significance
rs7612686720:3,183,853T/C—benign
rs52836589420:3,183,870G/C—uncertain significance
rs251438910320:3,183,880C/T—uncertain significance
rs6173551220:3,183,881G/C—uncertain significance
rs77152079620:3,183,908C/T—likely benign
rs20042705520:3,183,919G/C—uncertain significance
rs206704964520:3,183,932T/C—likely benign
rs75316108620:3,183,960C/T—uncertain significance
rs14591747920:3,183,961G/A—uncertain significance
rs14785398620:3,183,980C/T—likely benign
rs75882762920:3,184,017C/T—uncertain significance
rs53771483320:3,184,018G/A—likely benign
rs144881483420:3,184,050G/A—uncertain significance
rs206705073720:3,184,061G/A—likely benign
rs76708204720:3,185,164G/C—likely benign
rs4128185620:3,185,174A/T—benign
rs251439253420:3,185,185G/A—uncertain significance

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.