NFKBIA

NFKB inhibitor alpha

Summary

This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

Known Variants261 total

rsidPosition (GRCh37)AllelesClassClinVar
rs227365014:35,870,798C/T3 prime UTR variantbenign
rs55241873114:35,870,853C/T—uncertain significance
rs88605047514:35,870,917T/G—uncertain significance
rs1156962014:35,870,956C/A—benign
rs94064265314:35,870,967A/C—uncertain significance
rs18292907314:35,871,024G/A—benign
rs69614:35,871,093C/T3 prime UTR variantbenign
rs205272971914:35,871,117A/C—uncertain significance
rs52998427914:35,871,120A/T—benign
rs933335214:35,871,201C/G—benign
rs890414:35,871,217G/Aregulatory region variantbenign
rs77263032214:35,871,225C/T—likely benign
rs77596390014:35,871,226G/A—uncertain significance
rs76131315614:35,871,229A/C—uncertain significance
rs14297041414:35,871,232C/T—benign
rs75341993214:35,871,233G/A—conflicting classifications of pathogenicity
rs125093980514:35,871,237G/A—likely benign
rs213882970714:35,871,246C/G—likely benign
rs250217985214:35,871,256T/C—uncertain significance
rs75804406214:35,871,261G/T—likely benign
rs77986729014:35,871,262G/C—uncertain significance
rs143912627714:35,871,272A/G—likely benign
rs78107181414:35,871,275A/C—likely benign
rs102271414:35,871,407A/G—benign
rs36880130014:35,871,580G/A—benign
rs126240083014:35,871,581A/G—likely benign
rs101932342014:35,871,584G/T—likely benign
rs11680139814:35,871,602C/T—uncertain significance
rs14613258914:35,871,603G/A—likely benign
rs205273809414:35,871,607T/G—uncertain significance
rs77702070214:35,871,612G/A—likely benign
rs13918046014:35,871,618C/T—likely benign
rs20119183114:35,871,619G/A—uncertain significance
rs205273842414:35,871,624C/A—uncertain significance
rs213883037014:35,871,625T/C—uncertain significance
rs77260754514:35,871,630C/T—likely benign
rs95768800214:35,871,640T/C—conflicting classifications of pathogenicity
rs77404301114:35,871,644T/C—likely benign
rs126258137214:35,871,645C/T—likely benign
rs144884298114:35,871,653C/T—uncertain significance
rs75916142414:35,871,658C/T—uncertain significance
rs98956954014:35,871,659T/A—likely benign
rs250218127014:35,871,664G/A—uncertain significance
rs75602007814:35,871,665G/T—uncertain significance
rs213883046414:35,871,668G/C—uncertain significance
rs134738378214:35,871,680T/C—uncertain significance
rs75056281514:35,871,684T/C—likely benign
rs98397257414:35,871,696G/A—likely benign
rs213883055014:35,871,714C/T—likely benign
rs14991777414:35,871,715C/T—likely benign
rs74727394914:35,871,716G/A—uncertain significance
rs213883057314:35,871,722T/C—uncertain significance
rs37637083114:35,871,723T/G—likely benign
rs78146442514:35,871,727C/T—uncertain significance
rs92884186514:35,871,745T/C—uncertain significance
rs77366530714:35,871,753A/G—likely benign
rs118562294214:35,871,754T/C—uncertain significance
rs74977750414:35,871,756G/C—likely benign
rs205273961614:35,871,764A/G—uncertain significance
rs213883067014:35,871,765G/C—likely benign
rs250218175714:35,871,774G/A—likely benign
rs36980209314:35,871,786C/T—likely benign
rs76047858614:35,871,801G/A—likely benign
rs75722886114:35,871,813G/T—uncertain significance
rs76663128414:35,871,815C/A—uncertain significance
rs89473885114:35,871,818G/C—uncertain significance
rs250218190514:35,871,821T/C—likely benign
rs122770634014:35,871,824G/C—uncertain significance
rs250218194714:35,871,834T/G—likely benign
rs14386940514:35,871,837G/A—likely benign
rs78140412014:35,871,846G/A—likely benign
rs120558585814:35,871,853C/T—uncertain significance
rs75303089614:35,871,883G/A—likely benign
rs36860375914:35,871,957C/T—likely benign
rs75961820214:35,871,958G/A—likely benign
rs223341914:35,871,960A/G—benign
rs75300888714:35,871,962G/A—likely benign
rs129071431914:35,871,972C/T—uncertain significance
rs75498822214:35,871,973C/T—uncertain significance
rs77817220614:35,871,986G/A—likely benign
rs205274255214:35,872,001G/A—likely benign
rs250218245214:35,872,003A/T—uncertain significance
rs77939961414:35,872,018C/G—uncertain significance
rs74674123014:35,872,019G/A—likely benign
rs250218251014:35,872,021T/C—uncertain significance
rs130012054514:35,872,028G/A—likely benign
rs78081531814:35,872,029T/C—uncertain significance
rs14865610414:35,872,032C/T—uncertain significance
rs205274290414:35,872,036G/T—benign
rs213883121014:35,872,041G/A—uncertain significance
rs156659014714:35,872,043G/A—likely benign
rs76277195614:35,872,044G/A—uncertain significance
rs250218260514:35,872,048A/G—likely benign
rs213883122614:35,872,053A/G—likely benign
rs148592247514:35,872,058C/T—likely benign
rs14219519614:35,872,059G/A—benign
rs76949161114:35,872,064G/A—likely benign
rs223341814:35,872,068G/A—likely benign
rs213883128114:35,872,070A/G—likely benign
rs213883129214:35,872,082A/G—likely benign

Showing 100 of 261 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.