MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3

Summary

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Known Variants285 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13928204516:1,756,349G/A—benign
rs125709351816:1,756,355G/T—uncertain significance
rs94655458616:1,756,364G/T—uncertain significance
rs20107380716:1,756,379G/A—benign
rs214224752416:1,756,387A/G—uncertain significance
rs11654880516:1,756,406C/T—benign
rs76903815916:1,756,415G/A—uncertain significance
rs147914204716:1,756,419G/T—likely pathogenic
rs77070300716:1,756,451C/G—likely pathogenic
rs254794530716:1,756,507T/A—likely pathogenic
rs203739694616:1,756,553C/A—uncertain significance
rs214224826016:1,756,575G/A—uncertain significance
rs203739960116:1,756,621A/G—likely pathogenic
rs254794561516:1,756,659G/A—likely pathogenic
rs75721980416:1,758,018G/A——
rs74928544016:1,768,076G/A——
rs254797905816:1,774,613A/G—uncertain significance
rs3545965216:1,774,626C/T—benign
rs92595676916:1,774,627G/A—uncertain significance
rs37697849316:1,774,640G/A—uncertain significance
rs203911654316:1,779,163C/G—uncertain significance
rs214173160416:1,779,181A/T—uncertain significance
rs89703489016:1,779,188C/G—likely benign
rs254798939316:1,779,198C/T—uncertain significance
rs20111689516:1,779,215C/T—likely benign
rs254799075916:1,779,528T/C—uncertain significance
rs74735944416:1,779,529G/T—uncertain significance
rs78157312716:1,779,540G/C—uncertain significance
rs20216289716:1,779,556C/T—likely benign
rs76998195416:1,779,557G/A—uncertain significance
rs76291888316:1,779,561G/A—uncertain significance
rs57655021816:1,788,716C/T——
rs20172276216:1,793,378C/T—likely benign
rs78121208816:1,793,379G/A—uncertain significance
rs3572196516:1,793,383C/G—likely benign
rs254804953016:1,793,386T/C—uncertain significance
rs77881473916:1,793,400G/A—uncertain significance
rs74701922416:1,793,408G/C—uncertain significance
rs77654309616:1,793,411C/T—likely benign
rs120995136316:1,793,415C/T—uncertain significance
rs126971915516:1,793,440G/A—uncertain significance
rs229461216:1,796,776C/T—likely benign
rs229461316:1,797,050C/T—benign
rs76432317516:1,797,073C/T—uncertain significance
rs36921216616:1,797,110G/T—likely benign
rs136563907016:1,797,115C/T—uncertain significance
rs18890068216:1,797,134C/T—likely benign
rs74967105216:1,797,138G/A—likely benign
rs20045999116:1,797,183G/A—likely benign
rs75105360116:1,797,205G/A—uncertain significance
rs37690234616:1,797,222G/A—likely benign
rs11255965016:1,797,272T/C—likely benign
rs93975583116:1,798,262G/A—uncertain significance
rs37409923716:1,798,307G/C—uncertain significance
rs76299099316:1,798,324C/G—likely benign
rs254806307316:1,798,599A/G—uncertain significance
rs117824728316:1,798,646G/A—uncertain significance
rs122647858916:1,798,668C/T—uncertain significance
rs77594871316:1,798,671C/T—uncertain significance
rs159671117516:1,798,706G/A—conflicting classifications of pathogenicity
rs254806343316:1,798,712G/A—uncertain significance
rs78044013316:1,808,143C/T—likely benign
rs77443575416:1,808,150G/A—likely benign
rs122167000816:1,808,151G/T—not provided
rs20069083316:1,808,980G/A—likely benign
rs78137327616:1,809,956C/T—uncertain significance
rs204184075016:1,809,961A/G—uncertain significance
rs156719823416:1,810,003C/T—uncertain significance
rs156719875116:1,810,410T/C—likely pathogenic
rs76359539216:1,810,435C/T—likely benign
rs254809065516:1,810,439G/T—pathogenic
rs76778760916:1,810,446A/C—uncertain significance
rs75373131116:1,810,458G/T—uncertain significance
rs75492763816:1,810,459C/T—likely benign
rs77861980616:1,810,460G/A—uncertain significance
rs159676696316:1,810,461A/G—likely pathogenic
rs254809075116:1,810,462G/C—uncertain significance
rs204186965316:1,810,466G/C—uncertain significance
rs53046591816:1,810,482C/G—uncertain significance
rs139634081416:1,810,495G/A—likely benign
rs75853372216:1,810,503G/A—uncertain significance
rs20121070316:1,810,536G/A—likely benign
rs19982489016:1,811,240C/T—likely benign
rs74732872616:1,811,266A/G—uncertain significance
rs76982590116:1,811,273G/A—likely benign
rs36989019716:1,812,379C/T—uncertain significance
rs11633247216:1,812,387G/A—benign
rs159678011216:1,812,389G/A—conflicting classifications of pathogenicity
rs254809666716:1,812,409C/T—uncertain significance
rs254809668016:1,812,412A/G—uncertain significance
rs805240716:1,812,432G/A—likely benign
rs159678060216:1,812,477G/A—uncertain significance
rs76101647516:1,812,678C/T—uncertain significance
rs75437320316:1,812,681C/G—uncertain significance
rs75991654816:1,812,683C/T—uncertain significance
rs254809762416:1,812,687A/C—uncertain significance
rs254809765416:1,812,695T/A—uncertain significance
rs37093966116:1,812,697C/T—likely benign
rs156720308316:1,812,844C/T—pathogenic
rs57349560116:1,812,871C/T—uncertain significance

Showing 100 of 285 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.