LITAF

lipopolysaccharide induced TNF factor

Summary

Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

Known Variants240 total

rsidPosition (GRCh37)AllelesClassClinVar
rs720319316:11,641,180A/C
rs76063037516:11,641,614T/Cuncertain significance
rs15047247516:11,641,623G/Auncertain significance
rs75983256616:11,641,640T/Clikely benign
rs7480836516:11,641,861G/Cbenign
rs6202284816:11,641,866C/Tbenign
rs88605164716:11,641,936G/Tuncertain significance
rs7742350016:11,642,000A/Cbenign
rs206413227316:11,642,057A/Cuncertain significance
rs100576099216:11,642,071T/Cuncertain significance
rs8011958016:11,642,078G/Tbenign
rs77451306716:11,642,094G/Tuncertain significance
rs18431218516:11,642,107C/Tuncertain significance
rs77564254616:11,642,129T/Guncertain significance
rs710216:11,642,242C/Tbenign
rs94217204916:11,642,276T/Guncertain significance
rs88605164816:11,642,323T/Cuncertain significance
rs96789058116:11,642,439T/Guncertain significance
rs88605164916:11,642,544T/Cuncertain significance
rs7547225616:11,642,560G/Abenign
rs19276632216:11,642,589C/Tbenign
rs53565723616:11,642,611C/Tuncertain significance
rs718781016:11,642,677A/Tbenign
rs119816:11,642,697G/Abenign
rs88605165016:11,642,770T/Cuncertain significance
rs11708233016:11,642,782C/Abenign
rs19048454316:11,642,807G/Auncertain significance
rs36754675416:11,642,895C/Tuncertain significance
rs206414533116:11,642,930T/Guncertain significance
rs76776036116:11,642,993T/Cuncertain significance
rs19251663316:11,643,040G/Tbenign
rs1333702516:11,643,054C/Tbenign
rs1333672316:11,643,072G/Abenign
rs88605165116:11,643,199T/Auncertain significance
rs137060410316:11,643,259G/Tuncertain significance
rs88605165216:11,643,300C/Tuncertain significance
rs56535653616:11,643,308A/Guncertain significance
rs180197716:11,643,350G/Abenign
rs89886795216:11,643,355C/Guncertain significance
rs159732464716:11,643,377G/Tuncertain significance
rs14971265216:11,643,394G/Alikely benign
rs18910111516:11,643,425C/Tlikely benign
rs76863969016:11,643,445G/Auncertain significance
rs20142901916:11,643,456C/Guncertain significance
rs76685296316:11,643,460C/Tuncertain significance
rs57190854616:11,643,469G/Tuncertain significance
rs250654102916:11,643,496C/Guncertain significance
rs37629673916:11,643,498A/Glikely benign
rs86462274416:11,643,500C/Tuncertain significance
rs74801788516:11,643,501G/Aconflicting classifications of pathogenicity
rs37145315116:11,643,502C/Tconflicting classifications of pathogenicity
rs77252770916:11,643,506T/Cuncertain significance
rs250654139016:11,643,509G/Cuncertain significance
rs77412327516:11,643,511G/Alikely benign
rs250654161016:11,643,516G/Auncertain significance
rs76001883316:11,643,521G/Auncertain significance
rs54302281416:11,643,522C/Tuncertain significance
rs89777508016:11,643,529G/Cuncertain significance
rs77425885916:11,643,530T/Cuncertain significance
rs76401447616:11,643,531T/Guncertain significance
rs12190861516:11,643,549C/Amissense variantuncertain significance
rs37491825916:11,643,550G/Tuncertain significance
rs117421403916:11,643,555G/Auncertain significance
rs75061701316:11,643,559G/Alikely benign
rs75482195016:11,643,561C/Tuncertain significance
rs250654283716:11,643,564C/Guncertain significance
rs78078868716:11,643,567C/Tconflicting classifications of pathogenicity
rs74811864216:11,643,568G/Alikely benign
rs14423256916:11,643,569C/Tuncertain significance
rs206415594316:11,643,570A/Guncertain significance
rs105752442216:11,643,571G/Tuncertain significance
rs214168243516:11,643,572A/Guncertain significance
rs79704484816:11,643,575G/Amissense variantuncertain significance
rs28186513516:11,643,576G/Amissense variantuncertain significance
rs101267645716:11,643,580G/Alikely benign
rs250654348616:11,643,587C/Tuncertain significance
rs214168257316:11,643,590C/Guncertain significance
rs87925432516:11,643,591C/Tuncertain significance
rs77736328816:11,643,592C/Tlikely benign
rs20151288416:11,643,593G/Auncertain significance
rs79704484716:11,643,594C/Tmissense variantuncertain significance
rs86782085516:11,643,597T/Cuncertain significance
rs118392728516:11,643,598G/Alikely benign
rs159732505816:11,643,599C/Tuncertain significance
rs77421319716:11,643,604G/Auncertain significance
rs96956323116:11,643,608G/Aconflicting classifications of pathogenicity
rs993656116:11,643,628C/Tlikely benign
rs993594516:11,643,631G/Abenign
rs75238318416:11,643,649G/Tuncertain significance
rs7985229016:11,643,727G/Abenign
rs5913938716:11,643,795C/Tlikely benign
rs7501207816:11,643,856G/Abenign
rs7446940116:11,643,896G/Abenign
rs1164492016:11,645,013A/Tintron variant
rs7627812716:11,645,395C/Glikely benign
rs720628016:11,645,520C/Abenign
rs7564291416:11,645,522A/Clikely benign
rs105359526716:11,645,597C/Tlikely benign
rs6161793816:11,645,626T/Cbenign
rs5745674316:11,645,629G/Abenign

Showing 100 of 240 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.