NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Summary

This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]

Known Variants1,466 total

rsidPosition (GRCh37)AllelesClassClinVar
rs180053822:29,999,236G/C—benign
rs11204994322:29,999,358G/C—likely benign
rs14006278422:29,999,413A/C—likely benign
rs88605733122:29,999,586A/G—uncertain significance
rs88605733222:29,999,591C/T—uncertain significance
rs88605733322:29,999,668C/T—uncertain significance
rs88605733422:29,999,704C/A—uncertain significance
rs88605733522:29,999,720G/T—uncertain significance
rs5673382222:29,999,742C/G—benign
rs53643867522:29,999,743C/G—benign
rs180053922:29,999,784C/A—benign
rs116063981022:29,999,825C/T—uncertain significance
rs180054022:29,999,878C/G—benign
rs20159153622:29,999,970G/A—likely benign
rs143551599322:29,999,983G/A—uncertain significance
rs251822551822:29,999,987C/T—uncertain significance
rs131928247322:29,999,988A/G—conflicting classifications of pathogenicity
rs155597832522:29,999,989T/C—uncertain significance
rs128969831622:29,999,990G/A—uncertain significance
rs160151568222:29,999,991G/T—uncertain significance
rs206471258522:29,999,993C/T—likely benign
rs214665949122:29,999,994G/C—uncertain significance
rs128048721922:29,999,996G/A—likely benign
rs214665957722:29,999,997G/T—uncertain significance
rs14447707822:29,999,999C/T—likely benign
rs99877903522:30,000,002C/G—uncertain significance
rs160151575322:30,000,003G/C—uncertain significance
rs206471350022:30,000,004C/A—uncertain significance
rs214665968722:30,000,007C/T—uncertain significance
rs120850902122:30,000,008C/T—likely benign
rs86841693522:30,000,009C/T—uncertain significance
rs77556480622:30,000,010G/C—uncertain significance
rs124971768822:30,000,012A/G—uncertain significance
rs172964971922:30,000,013T/C—uncertain significance
rs206471441722:30,000,019T/G—uncertain significance
rs251822636822:30,000,021A/C—uncertain significance
rs251822640022:30,000,022G/C—uncertain significance
rs37180084322:30,000,023C/T—conflicting classifications of pathogenicity
rs251822651022:30,000,028T/C—uncertain significance
rs251822652322:30,000,029C/G—likely benign
rs155597835622:30,000,030A/T—pathogenic
rs251822660522:30,000,032G/A—likely benign
rs77497305922:30,000,035G/A—likely benign
rs100659202322:30,000,036A/C—uncertain significance
rs206471499822:30,000,037A/G—uncertain significance
rs147724248222:30,000,042C/T—uncertain significance
rs160151592822:30,000,043C/G—uncertain significance
rs54164123222:30,000,044C/G—likely benign
rs206471545922:30,000,045A/T—pathogenic
rs206471571022:30,000,046A/C—uncertain significance
rs251822685522:30,000,048A/G—uncertain significance
rs251822694022:30,000,050G/T—likely benign
rs206471593722:30,000,054A/C—uncertain significance
rs206471613722:30,000,056C/G—conflicting classifications of pathogenicity
rs77371478022:30,000,058T/C—conflicting classifications of pathogenicity
rs76106223222:30,000,059G/C—likely benign
rs206471652222:30,000,060A/T—uncertain significance
rs156925981322:30,000,061G/A—uncertain significance
rs206471675322:30,000,063A/G—uncertain significance
rs106479561222:30,000,064T/C—uncertain significance
rs206471695422:30,000,065C/G—uncertain significance
rs96523173422:30,000,066G/T—uncertain significance
rs251822752922:30,000,067T/C—uncertain significance
rs251822755522:30,000,068C/T—likely benign
rs251822758622:30,000,069A/G—uncertain significance
rs141044841622:30,000,071C/T—likely benign
rs206471733122:30,000,072A/G—uncertain significance
rs251822768322:30,000,074G/A—uncertain significance
rs160151605822:30,000,075G/A—uncertain significance
rs56316847822:30,000,076A/G—uncertain significance
rs251822777422:30,000,077C/T—likely benign
rs160151607822:30,000,080C/A—likely benign
rs37333708322:30,000,081G/A—uncertain significance
rs214666090322:30,000,082A/C—uncertain significance
rs214666092622:30,000,083G/A—likely benign
rs206471813422:30,000,084A/T—uncertain significance
rs251822797522:30,000,086G/A—uncertain significance
rs75342537622:30,000,087G/C—conflicting classifications of pathogenicity
rs214666100722:30,000,089G/A—likely benign
rs160151610722:30,000,091T/G—uncertain significance
rs97615307122:30,000,092C/G—uncertain significance
rs133252593422:30,000,093A/G—uncertain significance
rs37227945822:30,000,094A/G—conflicting classifications of pathogenicity
rs251822819322:30,000,097G/A—uncertain significance
rs130242893322:30,000,098C/A—pathogenic
rs251822823222:30,000,099G/T—pathogenic
rs214666125922:30,000,102G/T—pathogenic
rs120724667722:30,000,105A/T—uncertain significance
rs251822829122:30,000,106C/A—uncertain significance
rs106050367122:30,000,107C/G—uncertain significance
rs214666132522:30,000,108G/A—likely benign
rs156925989722:30,000,111C/T—likely benign
rs76462903822:30,000,112G/A—likely benign
rs120468624922:30,000,116G/T—likely benign
rs75834024322:30,000,118C/T—likely benign
rs206471983122:30,000,119C/G—likely benign
rs55186996222:30,000,120C/G—likely benign
rs74686850322:30,000,121G/T—likely benign
rs253184822:30,032,484A/C—benign
rs206565724422:30,032,722A/G—likely benign

Showing 100 of 1,466 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.