DMXL2

Dmx like 2

Summary

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Known Variants1,334 total

rsidPosition (GRCh37)AllelesClassClinVar
rs375158515:51,741,056G/A—benign
rs53377174715:51,741,184T/C—likely benign
rs75335099015:51,741,186G/A—likely benign
rs37339846215:51,741,191T/C—uncertain significance
rs254292058815:51,741,194A/C—uncertain significance
rs13913926315:51,741,195G/A—conflicting classifications of pathogenicity
rs254292072215:51,741,207G/A—uncertain significance
rs20193490315:51,741,208G/T—likely benign
rs56749396515:51,741,224G/A—uncertain significance
rs53779880515:51,741,238T/C—likely benign
rs120909922915:51,741,243G/C—uncertain significance
rs77611622915:51,741,244C/T—likely benign
rs15001718915:51,741,262G/A—likely benign
rs254292106015:51,741,268G/A—likely benign
rs75009503415:51,741,273G/A—uncertain significance
rs138917397315:51,741,275T/C—uncertain significance
rs14428516215:51,741,278C/T—uncertain significance
rs131653903415:51,741,295C/T—likely benign
rs55589428415:51,741,314A/G—benign
rs74605939515:51,741,316G/A—likely benign
rs94483926215:51,741,327T/C—uncertain significance
rs142442432915:51,741,331C/G—uncertain significance
rs118688829515:51,741,337A/G—likely benign
rs203891263715:51,741,343T/G—uncertain significance
rs156696672215:51,741,364T/C—likely benign
rs254292182215:51,741,393A/G—uncertain significance
rs136765978115:51,741,396G/A—likely benign
rs1259397915:51,741,579C/T—benign
rs77898986315:51,742,307A/G—likely benign
rs74592174415:51,742,308C/G—likely benign
rs19086867615:51,742,312T/C—likely benign
rs134316595115:51,742,313T/C—likely benign
rs74972385515:51,742,314G/C—likely benign
rs18267219615:51,742,317C/G—conflicting classifications of pathogenicity
rs53859412315:51,742,353G/A—likely benign
rs14290422115:51,742,369T/C—uncertain significance
rs14462762915:51,742,383C/T—likely benign
rs75607777515:51,742,398T/G—likely benign
rs203901482915:51,742,408G/A—uncertain significance
rs77762338015:51,742,413G/C—uncertain significance
rs14786483715:51,742,416C/G—likely benign
rs37493100915:51,742,417G/C—uncertain significance
rs53637665615:51,742,425G/A—likely benign
rs128538316215:51,742,428C/T—likely benign
rs135216811815:51,742,431C/T—likely benign
rs115879175915:51,742,436G/C—uncertain significance
rs20177025115:51,742,443G/A—likely benign
rs214117651615:51,742,451T/C—uncertain significance
rs254293017515:51,742,454A/G—uncertain significance
rs74848036315:51,742,457C/T—conflicting classifications of pathogenicity
rs77042651815:51,742,458G/A—likely benign
rs76242471415:51,742,460G/T—uncertain significance
rs140704172715:51,742,470A/G—likely benign
rs254293034715:51,742,471C/T—uncertain significance
rs77392801415:51,742,474C/G—uncertain significance
rs103383423115:51,742,482T/A—likely benign
rs76712032015:51,742,496T/G—uncertain significance
rs137122768315:51,742,498G/A—uncertain significance
rs203902216015:51,742,499G/T—uncertain significance
rs76040642815:51,742,515C/T—likely benign
rs19957662015:51,742,516G/A—uncertain significance
rs75381126515:51,742,525T/G—uncertain significance
rs98078593315:51,742,528T/C—uncertain significance
rs14562883015:51,742,530G/A—likely benign
rs75154223915:51,742,536C/A—likely benign
rs78149524115:51,742,537G/A—uncertain significance
rs132460113715:51,742,555A/G—likely benign
rs183116114415:51,742,562A/G—likely benign
rs1696435715:51,743,718C/T—benign
rs54831168215:51,743,827T/C—likely benign
rs125971653515:51,743,829G/C—likely benign
rs203914883715:51,743,831C/A—likely benign
rs254294291215:51,743,832C/A—likely benign
rs74957832415:51,743,845G/A—uncertain significance
rs145395633015:51,743,851G/C—uncertain significance
rs37756344015:51,743,861G/A—likely benign
rs254294338015:51,743,872A/G—likely benign
rs134164545315:51,743,873T/C—likely benign
rs74756705215:51,743,890C/G—uncertain significance
rs148437714515:51,743,900A/G—likely benign
rs19051100315:51,743,909C/A—benign
rs76978197715:51,743,914A/G—likely benign
rs254295882615:51,745,730C/T—likely benign
rs136996465615:51,745,735C/T—likely benign
rs36846753215:51,745,752G/A—likely benign
rs254295911115:51,745,757T/C—uncertain significance
rs103932950515:51,745,814T/C—uncertain significance
rs254295980415:51,745,825T/C—uncertain significance
rs214119565515:51,745,838T/C—uncertain significance
rs53992481315:51,745,842C/T—likely benign
rs20190635615:51,745,843G/A—likely benign
rs119901729515:51,747,328G/A—likely benign
rs137240246715:51,747,332A/G—likely benign
rs203951324815:51,747,333T/C—likely benign
rs76196279315:51,747,335T/G—likely benign
rs203951401415:51,747,337G/T—likely benign
rs144350710215:51,747,365T/C—uncertain significance
rs254297320015:51,747,366T/C—likely benign
rs76324501915:51,747,379T/A—uncertain significance
rs75455405515:51,747,402A/T—likely benign

Showing 100 of 1,334 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.