TM6SF2

transmembrane 6 superfamily member 2

Summary

Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants27 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55254903719:19,375,037A/C
rs37548600119:19,375,607C/Tuncertain significance
rs74828075919:19,375,654A/Guncertain significance
rs15091251219:19,377,303C/Tuncertain significance
rs20159525219:19,377,322C/Auncertain significance
rs74915635619:19,377,324A/Guncertain significance
rs76651304719:19,378,802C/Tuncertain significance
rs18172821819:19,378,803G/Auncertain significance
rs54652262219:19,378,875C/Guncertain significance
rs76043917619:19,379,483C/Auncertain significance
rs5854292619:19,379,549C/Tmissense variant
rs18742906419:19,380,513A/Gmissense variant
rs20070939519:19,380,536G/Alikely benign
rs36919832219:19,380,567C/Tuncertain significance
rs14205654019:19,380,568G/Abenign
rs77138805519:19,381,058C/Tuncertain significance
rs76553904419:19,381,063G/Auncertain significance
rs20113815819:19,381,069C/Tuncertain significance
rs78059067119:19,381,215A/Cuncertain significance
rs19999620119:19,381,858C/Tuncertain significance
rs18425430119:19,381,881G/Alikely benign
rs207430419:19,381,940G/Cbenign
rs14482137119:19,381,973G/Adownstream gene variant
rs57699410119:19,383,969G/Auncertain significance
rs132176213419:19,383,976C/Tuncertain significance
rs119675583219:19,384,003C/Tuncertain significance
rs146080556219:19,384,020T/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.