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FARP1

Synonyms
CDEP, FARP1-IT1, PLEKHC2, PPP1R75
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
25,443
Likely benign
16,840
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on FARP1 gene.

Phenotype class
Patients in 3billion (%)

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