MUC21

mucin 21, cell surface associated

Summary

This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3719282216:30,954,085G/A—uncertain significance
rs2007228696:30,954,127A/G—uncertain significance
rs3687303236:30,954,151G/A—uncertain significance
rs7509139376:30,954,196A/G—uncertain significance
rs7566005976:30,954,199A/G—uncertain significance
rs1472765136:30,954,255G/A—likely benign
rs5459282866:30,954,278A/G—likely benign
rs14575612586:30,954,291C/G—likely benign
rs9666834886:30,954,324G/C—uncertain significance
rs1491946436:30,954,327C/T—likely benign
rs7587513766:30,954,341G/A—uncertain significance
rs7559542456:30,954,349A/G—uncertain significance
rs13166065996:30,954,372C/T—likely benign
rs7465848136:30,954,388G/A—uncertain significance
rs412886466:30,954,438C/T—likely benign
rs5547507326:30,954,465C/T—likely benign
rs1399590596:30,954,480G/A—likely benign
rs7593272216:30,954,483C/T—likely benign
rs7454628786:30,954,508A/G—uncertain significance
rs5321083666:30,954,603G/A—likely benign
rs13252423066:30,954,623C/G—uncertain significance
rs17623257656:30,954,624A/T—likely benign
rs3759575046:30,954,648G/A—likely benign
rs1381244206:30,954,663C/T—likely benign
rs7709318456:30,954,665G/A—uncertain significance
rs7767346286:30,954,667A/G—uncertain significance
rs8791755656:30,954,669A/T—likely benign
rs412886536:30,954,696C/A—likely benign
rs7606382606:30,954,750G/A—likely benign
rs558491786:30,954,753C/T—likely benign
rs92623656:30,954,754G/T—uncertain significance
rs773867326:30,954,777C/T—likely benign
rs1470690236:30,954,782C/T—uncertain significance
rs25388840646:30,954,791G/A—uncertain significance
rs7691295256:30,954,827C/T—uncertain significance
rs12706106426:30,954,831C/G—likely benign
rs92623756:30,954,845A/G—likely benign
rs21506900536:30,954,849A/T—likely benign
rs1501816576:30,954,869G/A—uncertain significance
rs92623776:30,954,870T/G—uncertain significance
rs412886696:30,954,876C/T—likely benign
rs7572075396:30,954,885G/A—likely benign
rs11804104516:30,954,894A/T—likely benign
rs1121680556:30,954,915C/T—likely benign
rs8791772346:30,954,918A/C—likely benign
rs3774268306:30,954,933C/T—likely benign
rs557881186:30,954,934A/G—likely benign
rs5696754616:30,954,947A/C—uncertain significance
rs7795991636:30,954,957C/T—likely benign
rs1478440056:30,954,959G/Tmissense variant—
rs3675865766:30,954,962C/T—uncertain significance
rs559562036:30,954,963G/A—likely benign
rs25388862936:30,954,968C/T—uncertain significance
rs1491781106:30,954,978C/T—likely benign
rs1432858026:30,954,984A/T—likely benign
rs558091746:30,954,993C/T—likely benign
rs412886876:30,955,009A/C—likely benign
rs1398781956:30,955,016G/A—uncertain significance
rs412886936:30,955,029A/T—likely benign
rs563656606:30,955,050C/T—likely benign
rs2022062976:30,955,065G/A—likely benign
rs412886956:30,955,066A/G—likely benign
rs7517404246:30,955,068C/T—likely benign
rs7604800616:30,955,069A/G—uncertain significance
rs1995853346:30,955,074A/T—likely benign
rs25388877426:30,955,083C/T—likely benign
rs793990596:30,955,089G/C—likely benign
rs7785312836:30,955,092C/T—likely benign
rs412886986:30,955,113C/T—likely benign
rs13585335346:30,955,128C/T—likely benign
rs412845016:30,955,154G/A—uncertain significance
rs25388884126:30,955,155G/A—likely benign
rs17624167246:30,955,164A/T—likely benign
rs7578591076:30,955,172A/C—uncertain significance
rs761752616:30,955,179G/C—uncertain significance
rs12356093996:30,955,191G/C—likely benign
rs14760108306:30,955,227C/T—likely benign
rs7635622726:30,955,234A/G—uncertain significance
rs7511029226:30,955,235C/T—uncertain significance
rs7672846856:30,955,246G/A—likely benign
rs7554848776:30,955,256C/T—uncertain significance
rs5682954206:30,955,884C/G—uncertain significance
rs7643146256:30,955,897A/T—uncertain significance
rs7962673986:30,955,900C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.