TYK2

tyrosine kinase 2

Summary

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]

Known Variants828 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1272036319:10,460,939G/Adownstream gene variant—
rs88605413119:10,461,208G/A—uncertain significance
rs53738770619:10,461,219A/G—uncertain significance
rs131356585319:10,461,249G/T—uncertain significance
rs125847669019:10,461,250G/A—uncertain significance
rs1272033519:10,461,311T/C—likely benign
rs53483552419:10,461,336C/T—uncertain significance
rs76620364119:10,461,337G/A—uncertain significance
rs14586153219:10,461,364A/T—benign
rs1272033419:10,461,376T/C—benign
rs55636934019:10,461,390G/A—uncertain significance
rs18543573119:10,461,447C/T—uncertain significance
rs5617215019:10,461,491G/A—benign
rs130212551519:10,461,511C/T—likely benign
rs20093230519:10,461,514C/T—uncertain significance
rs251243301519:10,461,516C/A—likely benign
rs75492027319:10,461,518C/T—uncertain significance
rs37290312519:10,461,519G/A—conflicting classifications of pathogenicity
rs131102282619:10,461,530A/G—uncertain significance
rs37233810319:10,461,531A/C—likely benign
rs123317970419:10,461,532G/A—uncertain significance
rs251243320519:10,461,535G/A—uncertain significance
rs74754225619:10,461,542C/T—uncertain significance
rs37728386619:10,461,549C/T—conflicting classifications of pathogenicity
rs146906579819:10,461,554C/T—uncertain significance
rs77008944419:10,461,567C/T—likely benign
rs36884203019:10,461,585C/T—likely benign
rs5588693919:10,461,586T/C—benign
rs52985521719:10,461,587C/T—uncertain significance
rs75224920919:10,461,588G/A—likely benign
rs90589091719:10,461,593T/C—uncertain significance
rs75347014219:10,461,599G/T—uncertain significance
rs251243451819:10,461,649A/G—likely benign
rs74950746819:10,461,664C/G—likely benign
rs20154342719:10,461,708A/G—likely benign
rs122062486119:10,461,721G/C—likely benign
rs75189991419:10,461,739A/T—uncertain significance
rs37361873119:10,461,746G/A—likely benign
rs75674278419:10,461,750C/T—uncertain significance
rs77799514919:10,461,751G/A—uncertain significance
rs129109220919:10,461,768C/T—uncertain significance
rs77903730819:10,461,769G/Cmissense variantuncertain significance
rs129815078219:10,461,771T/C—uncertain significance
rs74614439119:10,461,772C/G—uncertain significance
rs204077961219:10,461,773C/T—uncertain significance
rs77541697419:10,461,785G/C—likely benign
rs76858090219:10,461,798G/C—uncertain significance
rs156832453419:10,461,808C/A—uncertain significance
rs251243624519:10,461,826G/A—uncertain significance
rs11407328919:10,461,827C/T—likely benign
rs75317961719:10,461,831A/C—uncertain significance
rs214512714319:10,461,832G/A—uncertain significance
rs1108572519:10,462,513C/G——
rs18758600519:10,462,914A/T—likely benign
rs1272032619:10,462,960G/C—benign
rs214513809219:10,463,093G/T—likely benign
rs204085769619:10,463,104T/A—uncertain significance
rs76250845119:10,463,105C/T—uncertain significance
rs14032415619:10,463,110C/A—uncertain significance
rs37361490119:10,463,113G/C—likely benign
rs204085867719:10,463,114G/C—uncertain significance
rs76459546819:10,463,115G/C—uncertain significance
rs3453644319:10,463,118G/Cmissense variantlikely benign
rs75784326119:10,463,120C/G—uncertain significance
rs75052554119:10,463,121T/C—uncertain significance
rs251244745119:10,463,138T/C—uncertain significance
rs124670053019:10,463,148G/A—likely benign
rs86765997619:10,463,149C/T—likely benign
rs204086103519:10,463,158G/C—likely benign
rs76983751119:10,463,167G/A—likely benign
rs214513902519:10,463,176G/T—likely benign
rs204086205619:10,463,186G/C—uncertain significance
rs77603461619:10,463,189T/C—uncertain significance
rs251244799219:10,463,191G/A—likely benign
rs204086259619:10,463,192T/C—uncertain significance
rs77719984719:10,463,201T/C—uncertain significance
rs77466070419:10,463,206C/T—likely benign
rs148879146519:10,463,213C/A—uncertain significance
rs214513943019:10,463,232G/C—likely benign
rs126160858619:10,463,233G/A—likely benign
rs230425219:10,463,235G/A—benign
rs204086445419:10,463,238G/A—likely benign
rs76648879019:10,463,242G/A—conflicting classifications of pathogenicity
rs14932923319:10,463,308G/A—likely benign
rs810056419:10,463,404C/A—benign
rs28049619:10,463,480C/Gregulatory region variantbenign
rs1272036019:10,463,579C/G—likely benign
rs214514377319:10,463,589C/A—uncertain significance
rs204088520219:10,463,591C/T—uncertain significance
rs204088551119:10,463,593C/T—likely benign
rs204088578319:10,463,597G/A—uncertain significance
rs14353363019:10,463,599C/T—likely benign
rs214514391819:10,463,604G/A—likely benign
rs251245247619:10,463,610G/A—likely benign
rs130060541619:10,463,611G/C—uncertain significance
rs204088670919:10,463,624C/G—uncertain significance
rs75590678719:10,463,646G/A—likely benign
rs156832629719:10,463,653T/G—uncertain significance
rs74756838919:10,463,655G/C—likely benign
rs75379904919:10,463,658C/A—likely benign

Showing 100 of 828 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.