rs1419864564
This variant is located in the CNKSR2 gene.
▶ClinVar annotation
Intellectual disability, X-linked, syndromic, Houge type
View on ClinVar →About CNKSR2
This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
View all CNKSR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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