DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

Summary

This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]

Known Variants753 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11368688421:38,738,569C/Aregulatory region variant—
rs14315689221:38,739,683A/C—benign
rs2856516121:38,739,846C/T—benign
rs7320393821:38,740,280C/Tregulatory region variant—
rs1248320521:38,740,824A/Gregulatory region variant—
rs7321640821:38,752,063T/Cintron variant—
rs997950621:38,761,352T/Aintron variant—
rs6222227221:38,764,820A/Gintron variant—
rs1170172221:38,770,530T/Cintron variant—
rs13906136321:38,775,232A/Cintron variant—
rs1170090221:38,776,080T/Cintron variant—
rs998173621:38,782,911T/C—benign
rs5583941121:38,782,955C/T—benign
rs1170126921:38,788,646T/Cupstream gene variant—
rs14463470721:38,790,888A/G—likely benign
rs11690651921:38,791,122A/G—likely benign
rs283572521:38,791,156A/G—benign
rs1781467521:38,791,536G/A—benign
rs205044044221:38,792,588T/A—uncertain significance
rs103813330121:38,792,589T/C—likely benign
rs75580712421:38,792,640C/T—likely benign
rs20165081721:38,792,661G/A—benign
rs78037171921:38,792,676G/A—uncertain significance
rs214842729921:38,792,683A/G—benign
rs205044234821:38,792,689G/C—uncertain significance
rs137034235221:38,792,691C/T—benign
rs105752266021:38,792,692T/G—conflicting classifications of pathogenicity
rs155596003821:38,792,695A/G—likely benign
rs143182759221:38,792,704A/G—likely benign
rs7321841021:38,794,588C/Tintron variant—
rs1170148321:38,800,108A/Gintron variant—
rs7321841521:38,803,692T/Cintron variant—
rs1170198221:38,804,310T/Cintron variant—
rs283574021:38,809,073T/Cintron variant—
rs283574221:38,813,979A/Gintron variant—
rs1170268921:38,814,172C/Tintron variant—
rs7321843121:38,814,509T/Cintron variant—
rs1170046221:38,817,812G/Aregulatory region variant—
rs113760021:38,823,260A/T——
rs19113554721:38,828,592C/T—likely benign
rs283576121:38,844,348T/Cintron variant—
rs1722940221:38,844,760T/A—benign
rs1699516721:38,844,811C/T—benign
rs53701857521:38,844,946A/C—benign
rs251795722021:38,844,966C/A—likely benign
rs36927761921:38,844,969C/T—likely benign
rs105752169321:38,844,971C/G—conflicting classifications of pathogenicity
rs75307113021:38,844,974A/G—likely benign
rs56037877221:38,844,975T/C—likely benign
rs155597692321:38,844,977T/G—likely benign
rs116013225421:38,844,979C/T—likely benign
rs205226579421:38,844,994A/G—conflicting classifications of pathogenicity
rs78020088321:38,845,018G/A—likely benign
rs140954155521:38,845,021C/T—uncertain significance
rs105717514721:38,845,022G/A—conflicting classifications of pathogenicity
rs214855639021:38,845,029A/G—likely benign
rs105688579421:38,845,031C/T—uncertain significance
rs74777401521:38,845,032G/A—likely benign
rs104975421:38,845,035A/G—likely benign
rs117827545221:38,845,041A/G—likely benign
rs251795753221:38,845,044C/A—uncertain significance
rs214855643021:38,845,051G/A—uncertain significance
rs89650849221:38,845,053T/A—likely benign
rs101019896921:38,845,062G/C—uncertain significance
rs76246654421:38,845,063A/G—benign
rs76579172921:38,845,066G/A—uncertain significance
rs77604389321:38,845,068T/A—uncertain significance
rs104975621:38,845,070G/T—uncertain significance
rs20118017021:38,845,071A/T—likely benign
rs96854914121:38,845,078C/T—uncertain significance
rs214855660521:38,845,092G/T—uncertain significance
rs205227017721:38,845,096A/G—uncertain significance
rs75416166521:38,845,097G/C—uncertain significance
rs36798487321:38,845,102C/A—uncertain significance
rs75060036821:38,845,103G/C—uncertain significance
rs142996577121:38,845,104T/C—likely benign
rs78025469021:38,845,106G/A—likely benign
rs205227130921:38,845,109A/T—benign
rs104975921:38,845,113A/T—likely benign
rs156935490721:38,845,114A/G—uncertain significance
rs155597707721:38,845,126C/T—pathogenic
rs155597708321:38,845,129C/G—benign
rs124820260421:38,845,131G/A—likely benign
rs75490926021:38,845,143A/G—likely benign
rs104976321:38,845,144T/C—likely benign
rs74790759921:38,845,146A/G—likely benign
rs104169117021:38,845,148A/G—conflicting classifications of pathogenicity
rs37317877021:38,845,162C/T—pathogenic
rs101800131721:38,845,167A/G—likely benign
rs251795806821:38,845,171C/G—uncertain significance
rs36882151621:38,845,173A/G—likely benign
rs155597717121:38,845,180C/T—pathogenic
rs214855694021:38,845,189T/C—likely benign
rs289831621:38,845,294G/A—benign
rs7390399721:38,845,350T/A—benign
rs1699517021:38,845,455G/A—benign
rs7340012121:38,845,474A/G—likely benign
rs283576221:38,845,798C/A——
rs13901471021:38,850,309C/G—likely benign
rs14046609021:38,850,470C/G—likely benign

Showing 100 of 753 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.