rs139635799
This variant is located in the CYFIP1 gene.
▶ClinVar annotation
not provided; not specified; Clear cell carcinoma of kidney; Uveal melanoma; Colorectal cancer; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Melanoma; Lung cancer; Cervical cancer; Familial cancer of breast; Uterine corpus endometrial carcinoma; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia
View on ClinVar →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]
View all CYFIP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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