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AURKC

Synonyms
AIE2, AIK3, ARK3, AurC, HEL-S-90, SPGF5, STK13, aurora-C
External resources
Summary
This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. 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
24
Likely pathogenic
3
VUS
1,260
Likely benign
531
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on AURKC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.1%
Abnormality of the eye
29.6%
Abnormality of the musculoskeletal system
25.9%
Abnormality of limbs
14.8%
Abnormality of the digestive system
14.8%
Abnormality of head or neck
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormality of the ear
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the respiratory system
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the cardiovascular system
3.7%
Abnormality of the immune system
3.7%
Abnormality of the voice
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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