MAP3K20

mitogen-activated protein kinase kinase kinase 20

Summary

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants329 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7594545002:173,955,751C/T—likely benign
rs5653338422:173,955,764C/T—uncertain significance
rs5772762952:173,955,765G/A—likely benign
rs1492303842:173,955,771C/T—likely benign
rs1481833632:173,955,785T/C—uncertain significance
rs13645396682:173,955,822C/T—likely benign
rs1471130742:173,955,825C/T—benign
rs2014118022:173,955,830G/C—uncertain significance
rs16872855702:173,955,861A/G—likely benign
rs1425440892:173,955,882G/A—likely benign
rs12515562212:173,955,914A/G—uncertain significance
rs1861251162:173,955,925T/A—likely benign
rs7631390202:173,955,931C/T—likely benign
rs7521245682:173,955,936T/C—likely benign
rs37692012:173,956,541T/Cregulatory region variant—
rs7228642:173,983,204A/Gintron variant—
rs76042882:173,998,431G/A——
rs7655357542:174,034,514C/T—likely benign
rs24681068342:174,034,529A/G—likely benign
rs7500119472:174,034,547T/C—likely benign
rs9680862442:174,034,580T/C—likely benign
rs14110044332:174,034,607T/C—likely benign
rs7611608712:174,047,564T/A—likely benign
rs2011910912:174,047,565C/T—likely benign
rs7535345722:174,047,568T/C—likely benign
rs7785868622:174,047,570C/G—likely benign
rs1455880732:174,047,579T/C—benign
rs16903691412:174,047,583A/G—likely benign
rs3752182602:174,047,604C/G—likely benign
rs24681344782:174,047,616T/G—uncertain significance
rs24681345302:174,047,633A/C—uncertain significance
rs7721274672:174,047,660C/T—uncertain significance
rs10430090352:174,047,690A/T—likely benign
rs12999194842:174,047,699A/G—likely benign
rs13912948072:174,047,701A/G—uncertain significance
rs21062707832:174,052,278G/C—likely benign
rs14822994352:174,052,292A/G—uncertain significance
rs16905255122:174,052,309G/A—uncertain significance
rs13178005602:174,052,338C/G—likely benign
rs16905268212:174,052,344A/C—likely benign
rs2020496822:174,052,350C/T—conflicting classifications of pathogenicity
rs7623170452:174,052,359A/G—likely benign
rs7477802502:174,052,364T/C—likely benign
rs16905292072:174,052,371A/C—likely benign
rs5519475832:174,053,825C/T——
rs7470960622:174,055,607T/C—likely benign
rs24681502022:174,055,618T/C—likely benign
rs3694830532:174,055,624T/C—likely benign
rs3737197082:174,055,628A/G—uncertain significance
rs7702834202:174,055,639T/C—likely benign
rs358532762:174,055,646C/T—benign
rs11678003172:174,055,655G/T—uncertain significance
rs16906299452:174,055,664C/A—likely benign
rs16906301412:174,055,668T/A—likely benign
rs3775162002:174,055,670C/G—likely benign
rs22893992:174,055,731A/G—benign
rs13769038362:174,055,749C/T—likely benign
rs2001370722:174,055,754T/A—likely benign
rs24681508162:174,055,787C/T—uncertain significance
rs24681508262:174,055,791G/T—likely benign
rs12792684062:174,055,813A/T—uncertain significance
rs15535784072:174,055,838G/A—pathogenic
rs7615704562:174,055,866C/T—benign
rs21062749762:174,055,867C/T—uncertain significance
rs16906384922:174,055,912T/C—likely benign
rs1469245562:174,062,736A/G—likely benign
rs7597049302:174,062,743T/G—likely benign
rs12280451282:174,062,750C/A—likely benign
rs21062843032:174,062,757C/G—uncertain significance
rs24681685702:174,062,759C/T—likely benign
rs2018268692:174,062,771A/G—likely benign
rs21062843532:174,062,783C/T—likely benign
rs24681686952:174,062,790A/C—uncertain significance
rs2009866982:174,062,794G/A—uncertain significance
rs5587863652:174,062,796T/C—likely benign
rs7791787362:174,062,816T/C—likely benign
rs14139244162:174,062,835A/G—uncertain significance
rs7466598022:174,062,849A/G—likely benign
rs7480544722:174,062,852T/G—likely benign
rs118997072:174,068,513G/C—benign
rs3688539422:174,068,520G/A—likely benign
rs7491737132:174,068,530A/G—uncertain significance
rs24681833242:174,068,536C/T—uncertain significance
rs1854975742:174,068,547C/G—uncertain significance
rs12325895752:174,068,556T/A—uncertain significance
rs24681834272:174,068,559T/C—likely benign
rs7620092292:174,068,572C/T—uncertain significance
rs7652260622:174,068,573A/C—uncertain significance
rs24681835322:174,068,590G/A—uncertain significance
rs13509571002:174,068,606T/C—likely benign
rs1482110312:174,068,607A/G—likely benign
rs7667483342:174,068,608T/C—likely benign
rs24681835672:174,068,609G/A—likely benign
rs12758855642:174,068,616T/C—likely benign
rs3724441022:174,074,443T/G—likely benign
rs24682006432:174,074,450T/C—likely benign
rs7634813002:174,074,460C/T—uncertain significance
rs7669116702:174,074,462G/T—likely benign
rs13768353312:174,074,464C/G—uncertain significance
rs16838175642:174,074,466T/A—uncertain significance

Showing 100 of 329 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.