rs75258648

This variant is located in the FARP1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters

not provided; Colorectal cancer; Thymoma; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Familial cancer of breast; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse; Thyroid cancer, nonmedullary, 1; Melanoma; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Lung cancer

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About FARP1

This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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