rs1285383162
This variant is located in the DMXL2 gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout DMXL2
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]
View all DMXL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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