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DOK1

Synonyms
P62DOK, pp62
External resources
Summary
The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several 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
7
Likely pathogenic
0
VUS
1,148
Likely benign
67
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on DOK1 gene are displayed below. The following symptoms were found in patients with a variant in DOK1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the genitourinary system
42.9%
Abnormality of head or neck
28.6%
Abnormality of the digestive system
28.6%
Abnormality of the ear
28.6%
Abnormality of the eye
28.6%
Abnormality of blood and blood forming tissues
14.3%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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