AHNAK2

AHNAK nucleoprotein 2

Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

Known Variants1,033 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20118996014:105,404,404C/G—uncertain significance
rs77863799014:105,404,492A/G—uncertain significance
rs37103908414:105,404,833A/G—uncertain significance
rs18490128414:105,404,855G/A—likely benign
rs20032805614:105,404,860C/A—uncertain significance
rs14360158314:105,404,884T/C—uncertain significance
rs74927625814:105,404,899C/T—likely benign
rs37273645214:105,404,929T/G—uncertain significance
rs19965019714:105,404,944G/A—uncertain significance
rs18859124614:105,404,976T/C—likely benign
rs77581396814:105,404,985G/T—uncertain significance
rs75203210814:105,405,007G/A—uncertain significance
rs20123369614:105,405,042A/G—likely benign
rs77963500514:105,405,047C/T—uncertain significance
rs77200470514:105,405,070G/T—uncertain significance
rs78152599914:105,405,071G/A—uncertain significance
rs54126162914:105,405,110C/T—uncertain significance
rs76031239714:105,405,193G/C—uncertain significance
rs20071274414:105,405,243C/T—likely benign
rs37299894814:105,405,265G/A—uncertain significance
rs20188572014:105,405,287C/T—benign
rs37586074314:105,405,364T/C—uncertain significance
rs37160167914:105,405,395C/G—uncertain significance
rs77067439414:105,405,404T/C—uncertain significance
rs214081468114:105,405,409A/G—uncertain significance
rs148480993314:105,405,410T/C—uncertain significance
rs20200987614:105,405,434T/A—uncertain significance
rs74552933214:105,405,439T/G—likely benign
rs75291954214:105,405,502G/C—uncertain significance
rs117258899414:105,405,523G/C—uncertain significance
rs254249053214:105,405,602A/G—uncertain significance
rs121918172214:105,405,634T/C—uncertain significance
rs37162529514:105,405,635T/C—uncertain significance
rs55253621414:105,405,641T/C—uncertain significance
rs254249088514:105,405,730C/A—uncertain significance
rs254249107114:105,405,792C/T—likely benign
rs57785655214:105,405,814A/G—uncertain significance
rs37288233014:105,405,830C/T—uncertain significance
rs5689867514:105,406,024G/C—benign
rs76706529014:105,406,052T/C—likely benign
rs18404244814:105,406,112C/T—uncertain significance
rs20178876914:105,406,114C/G—uncertain significance
rs102885149014:105,406,115C/G—uncertain significance
rs132504337114:105,406,117G/A—uncertain significance
rs37385842614:105,406,130C/A—uncertain significance
rs57155903814:105,406,183C/T—uncertain significance
rs118528414514:105,406,184G/C—uncertain significance
rs75558864314:105,406,208T/C—uncertain significance
rs36792169814:105,406,224G/C—uncertain significance
rs189792661814:105,406,225C/G—uncertain significance
rs75090846314:105,406,234G/A—uncertain significance
rs74589476614:105,406,250C/T—uncertain significance
rs19992447914:105,406,312A/T—uncertain significance
rs214081687114:105,406,367C/T—uncertain significance
rs18734587814:105,406,502T/C—conflicting classifications of pathogenicity
rs37122569014:105,406,586C/T—conflicting classifications of pathogenicity
rs37576458214:105,406,594C/G—uncertain significance
rs75889242414:105,406,624C/G—uncertain significance
rs77818552114:105,406,625C/G—uncertain significance
rs37681365014:105,406,648G/A—uncertain significance
rs37058518914:105,406,656G/A—likely benign
rs137320953714:105,406,772G/C—uncertain significance
rs254249523614:105,406,907G/T—uncertain significance
rs254249526214:105,406,911C/A—uncertain significance
rs128365992314:105,406,985C/A—uncertain significance
rs20192662714:105,407,117G/A—uncertain significance
rs36971546114:105,407,135G/T—uncertain significance
rs19971554814:105,407,209A/T—benign
rs20060068914:105,407,211C/G—uncertain significance
rs77402047714:105,407,326G/A—uncertain significance
rs36796801614:105,407,350G/A—uncertain significance
rs74961278414:105,407,399C/G—uncertain significance
rs254249773014:105,407,411T/C—uncertain significance
rs134941113214:105,407,438G/T—uncertain significance
rs75530133914:105,407,476C/T—uncertain significance
rs14856841014:105,407,502C/T—likely benign
rs189797386514:105,407,567A/T—uncertain significance
rs214081951414:105,407,575G/A—uncertain significance
rs37388440714:105,407,590G/A—uncertain significance
rs53735171714:105,407,697C/T—likely benign
rs131910282714:105,407,734T/A—uncertain significance
rs75956810114:105,407,762C/G—likely benign
rs20164802614:105,407,770T/A—conflicting classifications of pathogenicity
rs105580267014:105,407,783C/G—uncertain significance
rs20215334614:105,407,789T/C—uncertain significance
rs76857740114:105,407,818G/A—uncertain significance
rs127817154114:105,407,822C/T—likely benign
rs20205553814:105,407,848A/C—conflicting classifications of pathogenicity
rs36977264314:105,407,930C/A—uncertain significance
rs254250056814:105,407,951C/T—uncertain significance
rs75838809514:105,407,962C/T—likely benign
rs37104290614:105,407,999C/G—uncertain significance
rs77832437314:105,408,031T/A—uncertain significance
rs77691925414:105,408,037G/A—likely benign
rs75990766414:105,408,038C/T—uncertain significance
rs77515636414:105,408,045C/A—uncertain significance
rs75017258714:105,408,056G/A—uncertain significance
rs20144724814:105,408,058C/T—uncertain significance
rs56925085514:105,408,086C/T—likely benign
rs37055015314:105,408,092C/T—uncertain significance

Showing 100 of 1,033 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.