ANTXR2

ANTXR cell adhesion molecule 2

Summary

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants256 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5419622444:80,822,822T/C—uncertain significance
rs43317194:80,822,981G/C—benign
rs1147797584:80,823,036A/G—benign
rs7777006844:80,823,056T/C—uncertain significance
rs5330636234:80,823,058C/T—uncertain significance
rs9272019994:80,823,059G/A—uncertain significance
rs5689352694:80,823,158C/T—likely benign
rs17267246374:80,823,170T/C—uncertain significance
rs17267278274:80,823,225T/C—uncertain significance
rs17267294314:80,823,273A/C—uncertain significance
rs17267324354:80,823,317T/G—uncertain significance
rs1929838224:80,823,360C/A—likely benign
rs13403531114:80,823,666C/T—uncertain significance
rs1490986534:80,823,727G/A—likely benign
rs7634148054:80,823,736G/A—uncertain significance
rs17267536444:80,823,871G/A—uncertain significance
rs1996456524:80,823,880A/T—uncertain significance
rs5445902354:80,823,915A/G—uncertain significance
rs1905691434:80,823,953T/A—likely benign
rs1818954984:80,824,007T/C—uncertain significance
rs17267638364:80,824,079G/A—uncertain significance
rs9744855554:80,824,121T/C—uncertain significance
rs10536390624:80,824,251C/T—uncertain significance
rs567081074:80,824,311G/A—benign
rs10555367554:80,824,319A/T—uncertain significance
rs1813397224:80,824,360A/G—uncertain significance
rs9529782264:80,824,382T/C—uncertain significance
rs10057345694:80,824,389G/A—uncertain significance
rs756570444:80,824,525T/A—uncertain significance
rs119462054:80,824,527A/T—benign
rs3691167824:80,824,630C/T—uncertain significance
rs1913485484:80,824,681G/A—likely benign
rs1836363884:80,824,695A/C—uncertain significance
rs5401216834:80,824,740C/T—uncertain significance
rs5345240694:80,824,876C/T—uncertain significance
rs46118634:80,824,888A/G—benign
rs1478005264:80,824,934A/T—likely benign
rs17268043654:80,824,977T/C—uncertain significance
rs5748948294:80,824,981T/C—uncertain significance
rs8884875344:80,824,986A/C—uncertain significance
rs14378100344:80,825,039T/C—uncertain significance
rs7465700174:80,825,050C/T—uncertain significance
rs14278334634:80,825,110T/C—uncertain significance
rs5619424634:80,825,115T/C—uncertain significance
rs7682655994:80,825,212G/T—uncertain significance
rs17268210734:80,825,371A/G—uncertain significance
rs9828537374:80,825,478T/C—uncertain significance
rs17268304974:80,825,624G/C—uncertain significance
rs5298936044:80,825,684T/C—uncertain significance
rs13903530834:80,825,695C/T—uncertain significance
rs7600817514:80,825,744C/A—uncertain significance
rs17268394184:80,825,917T/G—uncertain significance
rs5597817094:80,826,033A/G—uncertain significance
rs1867337554:80,826,137G/A—uncertain significance
rs9954764964:80,826,154C/T—uncertain significance
rs10036087354:80,826,277T/C—uncertain significance
rs1155047704:80,826,280T/G—likely benign
rs17268554654:80,826,327A/G—uncertain significance
rs1167946754:80,826,338C/T—likely benign
rs5335178164:80,826,357T/A—uncertain significance
rs5432549314:80,826,358T/C—uncertain significance
rs10445191234:80,826,396T/G—uncertain significance
rs17268722264:80,826,788C/T—uncertain significance
rs9625958004:80,826,901A/G—uncertain significance
rs27604:80,826,912A/C—benign
rs1133228314:80,826,920T/C—benign
rs1434024994:80,827,020T/C—likely benign
rs1502815454:80,827,025G/A—benign
rs77474:80,827,062T/C—benign
rs14709473364:80,827,082C/A—uncertain significance
rs5723942734:80,827,107C/T—uncertain significance
rs1175330334:80,827,186C/T—uncertain significance
rs9560547374:80,827,288A/G—uncertain significance
rs10267887964:80,827,447G/A—uncertain significance
rs9288326694:80,827,450C/T—uncertain significance
rs1929056514:80,827,457A/T—uncertain significance
rs7533886424:80,827,469C/T—uncertain significance
rs5547169974:80,827,470G/A—uncertain significance
rs9397436404:80,827,484G/A—uncertain significance
rs17269081714:80,827,498A/G—uncertain significance
rs1144494054:80,827,636G/A—likely benign
rs635392614:80,827,798A/G—benign
rs11396384:80,827,799A/C—benign
rs13029973204:80,827,831G/C—uncertain significance
rs7783323414:80,827,855C/T—uncertain significance
rs7458969074:80,827,880G/A—uncertain significance
rs5374926484:80,827,881T/G—uncertain significance
rs1494040144:80,827,906G/A—benign
rs7557634544:80,828,024C/T—uncertain significance
rs10409640754:80,828,203A/G—uncertain significance
rs46901084:80,828,247G/A—benign
rs17269474084:80,828,320G/A—uncertain significance
rs14869488184:80,828,338T/C—uncertain significance
rs1396319744:80,828,341T/C—likely benign
rs14448601704:80,828,453T/C—uncertain significance
rs610484194:80,828,555G/A—benign
rs7648472934:80,828,585A/G—uncertain significance
rs13671521524:80,828,600G/A—uncertain significance
rs1994994014:80,828,618G/A—uncertain significance
rs100270704:80,828,668A/T—benign

Showing 100 of 256 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.