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SRPK3

Synonyms
MSSK-1, MSSK1, STK23
External resources
Summary
This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene.

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
6
Likely pathogenic
0
VUS
4,241
Likely benign
374
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on SRPK3 gene are displayed below. The following symptoms were found in patients with a variant in SRPK3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
60%
Abnormality of the eye
60%
Abnormality of the nervous system
60%
Abnormality of the digestive system
40%
Growth abnormality
40%
Abnormality of blood and blood forming tissues
20%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of metabolism homeostasis
20%
Abnormality of the ear
20%
Abnormality of the endocrine system
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the respiratory system
20%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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