ANO9

anoctamin 9

Summary

The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13995121311:418,376C/Tuncertain significance
rs253933606211:418,396A/Glikely benign
rs14628644911:418,421C/Tuncertain significance
rs13907076211:418,423G/Auncertain significance
rs127138441711:418,436G/Auncertain significance
rs135722599211:418,444G/Auncertain significance
rs253933639011:418,474T/Cuncertain significance
rs75762614311:418,489C/Tuncertain significance
rs77974122911:418,495C/Guncertain significance
rs142212897511:418,543T/Cuncertain significance
rs14906455211:418,550C/Tuncertain significance
rs75340196911:418,559C/Tuncertain significance
rs19392073911:418,804G/Cuncertain significance
rs36792144511:418,901C/Tuncertain significance
rs37466094611:418,947G/Tuncertain significance
rs78073578011:419,672A/Guncertain significance
rs19970821911:419,690G/Auncertain significance
rs1241857511:419,994C/T
rs76991387111:420,490G/Cuncertain significance
rs253934320311:420,551G/Alikely benign
rs120647573711:420,759G/Auncertain significance
rs75014701111:420,781G/Auncertain significance
rs20137123511:420,938C/Tlikely benign
rs253934448211:420,955A/Guncertain significance
rs37261708211:420,963C/Auncertain significance
rs148504131111:421,036C/Tuncertain significance
rs14626768311:421,183G/Alikely benign
rs53391501611:422,107C/T
rs37087080311:428,095G/Cuncertain significance
rs19966851711:428,154C/Tuncertain significance
rs116661168511:428,185A/Guncertain significance
rs13949338111:428,382C/Tuncertain significance
rs74885724911:428,566G/Auncertain significance
rs77008294411:428,594C/Tuncertain significance
rs76319146011:428,596C/Tuncertain significance
rs14363489711:428,624C/Tuncertain significance
rs11713625911:428,748C/Tlikely benign
rs53351498611:428,769G/Auncertain significance
rs20149323011:428,780C/Tuncertain significance
rs76269479111:429,576C/Guncertain significance
rs77803758711:429,613C/Tuncertain significance
rs711143211:429,659C/Tsplice region variant
rs37460209311:429,770T/Cuncertain significance
rs89735980011:430,157C/Tuncertain significance
rs74944878911:430,326A/Guncertain significance
rs37231622311:431,736C/Tlikely benign
rs37689887411:431,742C/Guncertain significance
rs37334926711:431,880C/Tuncertain significance
rs37393362811:431,898C/Tuncertain significance
rs75952304111:432,010G/Auncertain significance
rs7929869711:432,039G/Abenign
rs75557449711:432,043C/Tuncertain significance
rs14542202211:433,317G/Auncertain significance
rs14120252711:433,337C/Tlikely benign
rs101178784911:433,376C/Guncertain significance
rs75136622711:433,389G/Tuncertain significance
rs15016342311:433,417C/Tuncertain significance
rs77834101311:433,423G/Auncertain significance
rs37679773611:433,435A/Guncertain significance
rs37203679211:433,858T/Cuncertain significance
rs14268417011:433,873C/Tlikely benign
rs78176038511:433,874G/Auncertain significance
rs37632601611:433,896T/Clikely benign
rs77206247211:433,934C/Tuncertain significance
rs253937620011:433,936G/Auncertain significance
rs37315311111:434,049G/Auncertain significance
rs77743494311:434,065C/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.