rs2549101857
This variant is located in the ZEB2 gene.
▶ClinVar annotation
About ZEB2
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
View all ZEB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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