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DOK2

Synonyms
p56DOK, p56dok-2
External resources
Summary
The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells.

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
7,566
Likely benign
437
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on DOK2 gene are displayed below. The following symptoms were found in patients with a variant in DOK2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
64.3%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the nervous system
14.3%
Growth abnormality
14.3%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
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%

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