rs1131692231

This variant is located in the CYFIP2 gene.

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ClinVar annotation

Pathogenic★★★☆

12 submitters9 publications

Developmental and epileptic encephalopathy, 65; Seizure; Inborn genetic diseases; not provided

About CYFIP2

Predicted to enable small GTPase binding activity. Involved in several processes, including cell-cell adhesion; positive regulation of proteolysis; and regulation of postsynapse assembly. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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