MCTP1

multiple C2 and transmembrane domain containing 1

Summary

Enables calcium ion binding activity. Predicted to be involved in several processes, including modulation of chemical synaptic transmission; negative regulation of endocytosis; and negative regulation of response to oxidative stress. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants51 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7756932815:94,043,237A/Cuncertain significance
rs7499653275:94,043,263G/Cuncertain significance
rs7459291315:94,044,272A/Guncertain significance
rs25479219795:94,046,524C/Guncertain significance
rs14098625925:94,046,556A/Guncertain significance
rs1385692145:94,102,342G/C
rs354013525:94,114,863C/Tbenign
rs1441067405:94,134,726G/Auncertain significance
rs727753325:94,141,195C/T
rs1867403295:94,144,712A/Gintron variant
rs4693395:94,148,538G/C
rs174182835:94,154,588T/Cintron variant
rs5729238565:94,187,734T/C
rs13438388395:94,206,151T/Cuncertain significance
rs3719467295:94,206,651C/Tuncertain significance
rs12831087805:94,207,040C/Tuncertain significance
rs7664065595:94,207,070G/Cuncertain significance
rs1824435575:94,213,365C/Tintron variant
rs1590295:94,215,894T/A
rs170842015:94,224,591G/Abenign
rs7709454675:94,224,620T/Cuncertain significance
rs7734987825:94,230,403A/Tuncertain significance
rs11579661895:94,230,412T/Cuncertain significance
rs1409447755:94,230,426T/Cbenign
rs24812051285:94,245,037T/Cuncertain significance
rs5535745255:94,245,857A/G
rs7650915685:94,248,539C/Tuncertain significance
rs12231750815:94,278,131C/Tuncertain significance
rs7466874295:94,289,006T/Cuncertain significance
rs24837652535:94,289,011C/Tuncertain significance
rs7774088225:94,353,082C/Tuncertain significance
rs24873457055:94,353,143C/Tuncertain significance
rs12444134625:94,353,166G/Tuncertain significance
rs5334693385:94,357,316A/G
rs1834498925:94,480,003A/Gintron variant
rs7612076245:94,619,571C/Guncertain significance
rs11833477085:94,619,666G/Auncertain significance
rs13639331175:94,619,667C/Auncertain significance
rs10212689235:94,619,723C/Tlikely benign
rs9537758725:94,619,745C/Auncertain significance
rs2015382845:94,619,786G/Auncertain significance
rs7514586435:94,619,799A/Cuncertain significance
rs7712976995:94,619,825G/Cuncertain significance
rs25474235175:94,619,904G/Cuncertain significance
rs3742130285:94,619,958C/Guncertain significance
rs11645891085:94,619,964G/Auncertain significance
rs25474242675:94,619,993T/Guncertain significance
rs3739593935:94,620,070C/Auncertain significance
rs1995182175:94,620,102G/Auncertain significance
rs7512002315:94,620,171C/Auncertain significance
rs8965502385:94,620,189C/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.