Home > Gene Browser > ANKRD1

ANKRD1

Synonyms
ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
External resources
Summary
The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system.

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
1,663
Likely benign
5,698
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ANKRD1 gene.

Phenotype class
Patients in 3billion (%)

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