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CABLES1

Synonyms
CABL1, CABLES, HsT2563, IK3-1
External resources
Summary
This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene.

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
6,180
Likely benign
875
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CABLES1 gene.

Phenotype class
Patients in 3billion (%)

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