TYK2 Chromosome 19

Tyrosine kinase 2
73 variants 73 Health Risk

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What This Gene Does
This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
"FERM domain containing|Jak family tyrosine kinases"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000105397
Associated Conditions (9)
Immunodeficiency 35
Recurrent skin infections
Immunodeficiency
Inborn genetic diseases
TYK2-related disorder
Thyroid cancer
nonmedullary
1
Squamous cell carcinoma of the head and neck
Key Variants
RS138652649
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS140078545
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS142642403
Conflicting classifications of pathogenicity
Immunodeficiency 35, Recurrent skin infections, Immunodeficiency
Health Risk
RS1433952909
Conflicting classifications of pathogenicity
Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
Health Risk
RS144332908
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS146786766
Conflicting classifications of pathogenicity
Immunodeficiency 35, TYK2-related disorder, Immunodeficiency 35
Health Risk
RS147442318
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS1555719851
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS184567726
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS199931972
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS200752112
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS200791116
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
All Variants (73)
RSID Category Clinical Significance Conditions
RS138652649 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS140078545 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS142642403 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Recurrent skin infections, Immunodeficiency
RS1433952909 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS144332908 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS146786766 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder, Immunodeficiency 35
RS147442318 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS1555719851 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS184567726 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS199931972 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS200752112 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS200791116 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201240289 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201917359 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201945206 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS368109068 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS368801193 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS369530676 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS370673325 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS371832787 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder, Immunodeficiency 35
RS371939297 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS372903125 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS373246540 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS374132564 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS375414145 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS377283866 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS377517686 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS532521303 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS536181491 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS550060811 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS56212434 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS747608147 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Thyroid cancer
RS748006603 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS748475805 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS760895143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Immunodeficiency 35, Inborn genetic diseases
RS761205319 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS761512367 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS764154157 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS765576893 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS766488790 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS771922681 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS778243582 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
RS886054132 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder, Immunodeficiency 35
RS1463636749 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS1568333687 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS1599328119 Health Risk Likely pathogenic —
RS2145259879 Health Risk Likely pathogenic —
RS2512401555 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512493826 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512496407 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
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