SKIC2

SKI2 subunit of superkiller complex

Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

Known Variants867 total

rsidPosition (GRCh37)AllelesClassClinVar
rs172014666:31,926,600C/T—likely benign
rs1821422626:31,926,690G/T—uncertain significance
rs8860612986:31,926,697G/A—uncertain significance
rs8860612996:31,926,701T/C—uncertain significance
rs5466984436:31,926,721C/G—uncertain significance
rs8860613006:31,926,746G/A—uncertain significance
rs8860613016:31,926,775C/T—uncertain significance
rs8860613026:31,926,777A/C—uncertain significance
rs8860613036:31,926,927T/C—uncertain significance
rs7552767696:31,926,948A/T—uncertain significance
rs8860613046:31,926,956G/A—uncertain significance
rs7653974976:31,926,970A/G—uncertain significance
rs11740418206:31,926,978G/A—likely benign
rs9815826626:31,926,992G/A—likely pathogenic
rs24828595846:31,926,994G/T—uncertain significance
rs11803647936:31,926,996G/A—uncertain significance
rs2010337186:31,926,999G/C—likely benign
rs24828599466:31,927,000G/A—likely benign
rs7560048946:31,927,001A/G—likely benign
rs5340000166:31,927,005G/C—likely benign
rs15626498206:31,927,007G/A—likely benign
rs7684438326:31,927,009G/A—likely benign
rs5625213496:31,927,054C/T—likely benign
rs7640769226:31,927,056T/C—likely benign
rs1451299116:31,927,060A/T—benign
rs14167407346:31,927,066C/T—likely benign
rs17723250956:31,927,069C/T—likely benign
rs5739339836:31,927,076C/T—likely benign
rs17723258746:31,927,078A/G—likely benign
rs5446340086:31,927,080C/T—uncertain significance
rs5630367396:31,927,082C/G—uncertain significance
rs17723270836:31,927,083C/T—uncertain significance
rs12539312166:31,927,090T/C—likely benign
rs7486489206:31,927,101T/C—uncertain significance
rs12643225376:31,927,102A/T—likely benign
rs24828632376:31,927,111G/A—likely benign
rs10126474276:31,927,128G/A—uncertain significance
rs17723324466:31,927,130A/G—uncertain significance
rs24828638166:31,927,136C/T—uncertain significance
rs24828639356:31,927,142G/T—pathogenic
rs14178189646:31,927,150G/T—likely benign
rs24828640936:31,927,156G/A—likely benign
rs17723342136:31,927,157C/G—uncertain significance
rs21518020416:31,927,163G/C—uncertain significance
rs21518020466:31,927,167C/T—uncertain significance
rs8860613056:31,927,171G/A—conflicting classifications of pathogenicity
rs7771310786:31,927,181A/G—uncertain significance
rs7599096046:31,927,189T/C—likely benign
rs24828650546:31,927,190T/G—likely benign
rs24828651966:31,927,195C/G—likely benign
rs4404546:31,927,342G/A—benign
rs24828752306:31,927,771C/T—likely benign
rs24828753396:31,927,776C/T—likely benign
rs24828753916:31,927,779T/C—likely benign
rs7651166566:31,927,787C/A—uncertain significance
rs8860613066:31,927,792C/T—conflicting classifications of pathogenicity
rs7463716516:31,927,831A/G—benign
rs24828766996:31,927,834A/G—likely benign
rs24828767886:31,927,838C/T—pathogenic
rs359858696:31,927,839A/G—conflicting classifications of pathogenicity
rs7719922526:31,927,860C/G—uncertain significance
rs14197912116:31,927,867G/T—likely benign
rs7618095776:31,927,875A/C—uncertain significance
rs17723793626:31,927,877G/C—uncertain significance
rs9191567116:31,927,883G/A—uncertain significance
rs7595115166:31,927,895C/T—pathogenic
rs7652211776:31,927,896G/A—uncertain significance
rs7525747556:31,927,901G/A—uncertain significance
rs7581479566:31,927,908G/A—likely benign
rs24828792696:31,927,910A/C—likely benign
rs7636695976:31,927,912G/A—likely benign
rs21518030926:31,927,916T/C—likely benign
rs24828808016:31,927,977G/A—likely benign
rs24828808946:31,927,979T/C—likely benign
rs7804975336:31,927,981C/T—likely benign
rs13579779866:31,927,989C/A—likely benign
rs9481468956:31,927,992T/C—likely benign
rs1467175556:31,928,014C/T—likely benign
rs1405001936:31,928,015G/T—likely benign
rs7638906666:31,928,020C/T—uncertain significance
rs13118208126:31,928,021C/T—likely benign
rs7608000936:31,928,026C/T—uncertain significance
rs115414006:31,928,039C/G—benign
rs7639469906:31,928,047C/G—uncertain significance
rs5677934306:31,928,055C/T—uncertain significance
rs7664578656:31,928,060C/T—likely benign
rs13754548136:31,928,063C/A—uncertain significance
rs21518033576:31,928,068A/G—uncertain significance
rs13181964846:31,928,081C/T—likely benign
rs14334067016:31,928,090A/G—likely benign
rs24828843126:31,928,100C/T—likely benign
rs12255490156:31,928,102G/C—likely benign
rs24828844296:31,928,105T/A—likely benign
rs12322747296:31,928,112G/C—uncertain significance
rs3757015296:31,928,122G/A—likely benign
rs7805506536:31,928,123T/G—likely benign
rs7553631396:31,928,129G/T—uncertain significance
rs7658663276:31,928,189G/T—likely benign
rs7543401536:31,928,190C/T—likely benign
rs24828867306:31,928,192C/G—likely benign

Showing 100 of 867 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.