NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit

Summary

This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]

Known Variants304 total

rsidPosition (GRCh37)AllelesClassClinVar
rs576043596:117,996,402G/A—likely benign
rs1148788846:117,996,617A/G—likely benign
rs801969326:117,996,631T/C—benign
rs1929208396:117,996,649G/A—likely benign
rs97674516:117,996,818T/C—benign
rs7643245406:117,996,830G/T—uncertain significance
rs24819821776:117,996,836G/A—uncertain significance
rs7535507696:117,996,839G/C—likely benign
rs17729606806:117,996,840G/A—uncertain significance
rs14494006186:117,996,848C/A—pathogenic
rs13746178886:117,996,849G/C—uncertain significance
rs24819822266:117,996,851G/T—uncertain significance
rs11922380746:117,996,852C/G—uncertain significance
rs7785925246:117,996,855G/T—uncertain significance
rs24819822756:117,996,856T/C—uncertain significance
rs7454340076:117,996,857G/A—likely benign
rs21146743086:117,996,859G/A—likely pathogenic
rs7579666486:117,996,860G/T—uncertain significance
rs14738768776:117,996,861C/T—uncertain significance
rs13694945296:117,996,862G/A—uncertain significance
rs9375043756:117,996,863G/T—likely benign
rs13900380026:117,996,865T/C—uncertain significance
rs14599463256:117,996,868T/C—uncertain significance
rs21146743256:117,996,869G/A—likely benign
rs13227218576:117,996,872C/T—likely benign
rs10153637416:117,996,878G/C—likely benign
rs9625120596:117,996,879C/T—uncertain significance
rs12450047866:117,996,882T/C—uncertain significance
rs17729624656:117,996,885C/G—uncertain significance
rs12257578046:117,996,889A/T—uncertain significance
rs9743355346:117,996,890C/G—uncertain significance
rs5291450436:117,996,892G/C—uncertain significance
rs5508542346:117,996,896G/T—likely benign
rs17729629276:117,996,899C/A—likely benign
rs7479534606:117,996,901C/T—uncertain significance
rs5689167156:117,996,902C/G—likely benign
rs17729634986:117,996,907G/A—pathogenic
rs7745535416:117,996,908G/C—uncertain significance
rs11884321856:117,996,909C/T—uncertain significance
rs11614370136:117,996,915G/C—uncertain significance
rs14566018316:117,996,923C/T—likely benign
rs11945158106:117,996,927A/G—uncertain significance
rs24819826036:117,996,928C/T—uncertain significance
rs12870689046:117,996,930T/C—uncertain significance
rs21146744156:117,996,932G/A—pathogenic
rs9346705356:117,996,933A/G—uncertain significance
rs15824610396:117,996,937G/A—pathogenic
rs12512488916:117,996,938G/T—uncertain significance
rs13963931466:117,996,941C/G—uncertain significance
rs24819826436:117,996,943G/A—pathogenic
rs24819826536:117,996,947G/C—likely benign
rs13333367206:117,996,950C/T—likely benign
rs7596723956:117,996,952G/A—uncertain significance
rs24819826766:117,996,953C/T—likely benign
rs9146789076:117,996,956C/G—uncertain significance
rs12883884326:117,996,957C/T—uncertain significance
rs17729650826:117,996,958G/C—uncertain significance
rs13278928786:117,996,960G/A—uncertain significance
rs24819827106:117,996,961C/G—uncertain significance
rs10396408126:117,996,963G/A—uncertain significance
rs12388934796:117,996,966T/C—uncertain significance
rs24819827266:117,996,969G/C—uncertain significance
rs12594953626:117,996,971C/G—likely benign
rs7675170426:117,996,977C/T—likely benign
rs11846494646:117,996,985C/T—uncertain significance
rs8682717966:117,996,986G/T—likely benign
rs14723128866:117,996,987C/G—uncertain significance
rs11567585986:117,996,989C/G—likely benign
rs13792905306:117,996,991G/A—uncertain significance
rs15824611506:117,996,998G/A—likely benign
rs8967917706:117,996,999C/T—uncertain significance
rs9310661536:117,997,002C/T—uncertain significance
rs13082784106:117,997,003G/T—uncertain significance
rs7611217956:117,997,007G/T—conflicting classifications of pathogenicity
rs7646391906:117,997,008C/T—uncertain significance
rs14368437706:117,997,011C/G—uncertain significance
rs17729676526:117,997,013G/A—likely benign
rs7541910356:117,997,018T/G—uncertain significance
rs8907637636:117,997,028C/T—likely benign
rs12696183586:117,997,029C/G—likely benign
rs5396686566:117,997,030G/A—uncertain significance
rs14336680096:117,997,032C/A—uncertain significance
rs11981062676:117,997,033G/C—uncertain significance
rs13929777346:117,997,035C/T—uncertain significance
rs14314089786:117,997,037C/T—likely benign
rs10067539006:117,997,042G/A—uncertain significance
rs17729692846:117,997,046C/G—uncertain significance
rs14601978136:117,997,047C/A—uncertain significance
rs12947448756:117,997,048C/T—uncertain significance
rs13677343106:117,997,049G/A—likely benign
rs10412594626:117,997,053G/T—uncertain significance
rs8982678666:117,997,054G/A—uncertain significance
rs24819831146:117,997,056G/T—uncertain significance
rs5578671646:117,997,057G/A—conflicting classifications of pathogenicity
rs12758655626:117,997,058G/C—likely benign
rs24819831386:117,997,059T/G—uncertain significance
rs24819831576:117,997,064C/T—likely benign
rs12027407146:117,997,069C/T—uncertain significance
rs10101513686:117,997,073C/G—likely benign
rs14888575386:117,997,076A/G—likely benign

Showing 100 of 304 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.