VNN1

vanin 1

Summary

This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs617295836:133,004,281A/G—benign
rs7786574616:133,004,296A/G—uncertain significance
rs3734370606:133,004,308C/T—likely benign
rs7749751776:133,004,428G/T—uncertain significance
rs7544764216:133,004,461C/T—uncertain significance
rs9397957376:133,005,488G/A—uncertain significance
rs1911631816:133,005,498A/G—likely benign
rs13496680316:133,005,500T/G—uncertain significance
rs2021061286:133,005,539C/T—likely benign
rs2010588796:133,005,614T/C—likely benign
rs359385656:133,013,432A/G—benign
rs345350506:133,013,576G/T—benign
rs15622156026:133,013,583T/C—uncertain significance
rs11995860506:133,013,645G/A—uncertain significance
rs24833127696:133,013,649G/A—uncertain significance
rs455234446:133,013,662C/G—benign
rs7454911216:133,013,699G/A—uncertain significance
rs3719349236:133,013,702T/A—uncertain significance
rs454586976:133,013,726G/A—benign
rs12875473226:133,014,255A/G—uncertain significance
rs7787530486:133,014,292C/G—likely benign
rs17783165126:133,014,297G/A—uncertain significance
rs7578905576:133,014,306T/C—uncertain significance
rs7797303906:133,014,318A/T—uncertain significance
rs7749966926:133,014,360G/A—uncertain significance
rs2007824736:133,015,133T/C—uncertain significance
rs1481271746:133,015,143C/A—uncertain significance
rs1419484576:133,015,167A/G—uncertain significance
rs7812682716:133,015,170C/T—uncertain significance
rs1506832156:133,015,193C/T—likely benign
rs456243366:133,015,227C/T—benign
rs456100326:133,015,257C/G—benign
rs22729966:133,015,271T/Cmissense variant—
rs2011698896:133,015,275T/C—likely benign
rs96899396:133,018,271T/A——
rs23272756:133,024,980C/G——
rs1504913496:133,025,165G/Tdownstream gene variant—
rs1395984736:133,028,675A/Gintron variant—
rs38230266:133,032,611G/Aintron variant—
rs1473826776:133,032,854C/T—likely benign
rs7467387776:133,032,855G/A—uncertain significance
rs7809868756:133,032,863C/G—uncertain significance
rs455644416:133,032,973C/T—benign
rs7485185026:133,034,996A/G—uncertain significance
rs17786364806:133,035,033C/T—uncertain significance
rs3728983706:133,035,090C/G—uncertain significance
rs7659430426:133,035,150C/T—uncertain significance
rs48976126:133,035,325A/C—benign
rs1896960806:133,036,058A/Gupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.