rs1566920518

This variant is located in the CYFIP1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CYFIP1

This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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