HAVCR1

hepatitis A virus cellular receptor 1

Summary

The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. The protein is a receptor for multiple other viruses, including Ebola virus, Marburg virus, Dengue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 2021]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1452370725:156,456,709C/Tbenign
rs1117595515:156,456,731G/Tbenign
rs5518518905:156,456,837G/Tuncertain significance
rs77166145:156,456,862G/Tbenign
rs346708395:156,459,856C/Tbenign
rs3753076745:156,459,886T/Clikely benign
rs22770255:156,460,095T/Cintron variant
rs104629755:156,463,358C/Tintron variant
rs20364025:156,464,242T/Cintron variant
rs3702211615:156,464,261T/Cuncertain significance
rs7730910165:156,464,288G/Auncertain significance
rs7541718035:156,464,322G/Cuncertain significance
rs14841325435:156,464,324T/Glikely benign
rs7698141755:156,464,354T/Cuncertain significance
rs7586202245:156,464,360C/Tuncertain significance
rs68780695:156,471,069A/Gintron variant
rs742098315:156,471,573A/Gintron variant
rs22798045:156,479,204C/Tintron variant
rs15533185:156,479,323G/Aintron variant
rs7642586325:156,479,385C/Tlikely benign
rs7524042845:156,479,423C/Tuncertain significance
rs15533175:156,479,424A/Cbenign
rs125222485:156,479,426T/Cmissense variantbenign
rs7579014895:156,479,427T/Clikely benign
rs1159248395:156,479,464G/Abenign
rs7768199115:156,479,477C/Tuncertain significance
rs7742736685:156,479,479C/Tuncertain significance
rs738159125:156,479,488G/Abenign
rs2015664255:156,479,490T/Clikely benign
rs2009043605:156,479,492A/Glikely benign
rs15533165:156,479,509A/Gmissense variantbenign
rs617340355:156,479,524G/Tuncertain significance
rs3733454045:156,479,557G/Auncertain significance
rs1998164595:156,479,600T/Cuncertain significance
rs7752988195:156,479,608G/Auncertain significance
rs1507313975:156,479,620G/Clikely benign
rs111345265:156,481,013G/Aintron variant
rs22709245:156,482,101A/Tintron variant
rs3709804395:156,482,263G/Auncertain significance
rs1998491625:156,482,293T/Cuncertain significance
rs560843115:156,482,296C/Gbenign
rs5415415675:156,482,377G/Auncertain significance
rs1911178915:156,482,387G/Abenign
rs617340295:156,482,441G/Abenign
rs1417739145:156,482,446T/Glikely benign
rs3684742185:156,482,452A/Cuncertain significance
rs18099415:156,482,459T/Gbenign
rs10156137655:156,482,533C/Auncertain significance
rs100661685:156,484,218C/G
rs3691619175:156,484,904C/Tlikely benign
rs17563185555:156,484,941A/Guncertain significance
rs343335115:156,485,368A/T5 prime UTR variant
rs93134225:156,485,370C/T
rs412975795:156,486,408C/Tregulatory region variant
rs412975775:156,486,503C/T
rs77029195:156,486,591T/Cupstream gene variant
rs1164459675:156,486,943T/Aregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.