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ENKUR

Synonyms
C10orf63, CFAP106
External resources
Summary
This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
4,433
Likely benign
89
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on ENKUR gene are displayed below. The following symptoms were found in patients with a variant in ENKUR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
28.6%
Abnormality of the integument
28.6%
Abnormality of the musculoskeletal system
28.6%
Growth abnormality
21.4%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of limbs
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the respiratory system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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