rs864309720
This is a variant in the MAPRE2 gene that changes a arginine to an cysteine.
▶ClinVar annotation
Developmental disorder; Skin creases, congenital symmetric circumferential, 2 (CSCSC2)
View on ClinVar →About MAPRE2
The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
View all MAPRE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…