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ACTRT2

Synonyms
ARPM2, ARPT2, Arp-T2, HARPM2
External resources
Summary
The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx.

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
709
Likely benign
294
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ACTRT2 gene.

Phenotype class
Patients in 3billion (%)

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