TUBB3

tubulin beta 3 class III

Summary

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

Known Variants285 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14462341616:89,988,249T/Aregulatory region variant—
rs718681516:89,989,452G/A—benign
rs55724430316:89,989,521T/A—likely benign
rs55868318716:89,989,681C/T—likely benign
rs74833221816:89,989,780G/T—likely benign
rs254461517316:89,989,814G/A—conflicting classifications of pathogenicity
rs214439922916:89,989,818G/C—uncertain significance
rs254461522016:89,989,840C/A—uncertain significance
rs214439928416:89,989,842G/C—uncertain significance
rs214439929716:89,989,855A/T—uncertain significance
rs77803207116:89,989,858G/C—likely benign
rs254461525716:89,989,859G/T—uncertain significance
rs136734233116:89,989,883C/T—likely benign
rs455044716:89,991,599G/Cdownstream gene variant—
rs18735360016:89,991,987G/Aregulatory region variant—
rs56877127516:89,995,019G/A——
rs5833681216:89,998,648T/G—benign
rs2852146116:89,998,744C/G—benign
rs230289816:89,998,794G/A—benign
rs2859363416:89,998,930C/T—benign
rs230289716:89,998,957C/T—benign
rs7865698316:89,998,958C/G—benign
rs74756495716:89,998,959C/T—likely benign
rs52842851216:89,998,960T/C—benign
rs254462460816:89,998,962T/C—likely benign
rs19026117616:89,998,976C/A—uncertain significance
rs156776396416:89,998,992T/C—uncertain significance
rs203031652716:89,998,993C/T—likely benign
rs36935513516:89,999,011C/T—likely benign
rs76736459016:89,999,016C/G—uncertain significance
rs76066233116:89,999,020C/T—likely benign
rs215109199316:89,999,028A/G—uncertain significance
rs37272047216:89,999,030G/A—conflicting classifications of pathogenicity
rs14971111216:89,999,035C/T—likely benign
rs76185173516:89,999,036G/A—uncertain significance
rs203031814816:89,999,040C/T—uncertain significance
rs76526429416:89,999,041G/T—likely benign
rs155562536316:89,999,057C/T—conflicting classifications of pathogenicity
rs133370617216:89,999,058G/A—pathogenic
rs75068258216:89,999,059G/A—likely benign
rs134345989816:89,999,077C/G—uncertain significance
rs254462476616:89,999,091A/C—not provided
rs77823593516:89,999,093T/C—uncertain significance
rs134072845016:89,999,095C/A—likely benign
rs37456109416:89,999,099C/T—likely benign
rs7281344916:89,999,855C/G—likely benign
rs76470299816:89,999,856G/A—likely benign
rs254462555416:89,999,857A/C—likely benign
rs14487380616:89,999,870C/T—conflicting classifications of pathogenicity
rs14792839916:89,999,871C/G—benign
rs215109228216:89,999,887G/T—likely pathogenic
rs86432171416:89,999,894G/Amissense variantlikely pathogenic
rs14673021616:89,999,898C/G—likely benign
rs79704607616:89,999,899A/G—uncertain significance
rs75106685016:89,999,907G/A—likely benign
rs254462560716:89,999,909A/T—uncertain significance
rs254462561816:89,999,914G/A—uncertain significance
rs75468336116:89,999,919C/T—conflicting classifications of pathogenicity
rs86432171516:89,999,920G/Amissense variantpathogenic
rs215109229316:89,999,921G/C—likely pathogenic
rs203034476116:89,999,930A/G—uncertain significance
rs19961279816:89,999,934T/C—likely benign
rs18544785716:89,999,937C/T—benign
rs203034513916:89,999,938C/T—uncertain significance
rs254462567916:89,999,980A/G—uncertain significance
rs74648871016:89,999,992T/C—uncertain significance
rs7719144516:89,999,994C/T—benign
rs7768105916:90,000,044C/T—benign
rs14053118416:90,000,129C/T—benign
rs55198316416:90,000,141G/A—likely benign
rs7614966116:90,000,184C/T—benign
rs57807676116:90,000,733C/T—likely benign
rs5692388216:90,000,895C/T—benign
rs439653616:90,000,925T/C—benign
rs7563576916:90,000,962C/G—likely benign
rs52881563316:90,001,040G/C—benign
rs74631499716:90,001,118C/T—likely benign
rs20079987116:90,001,121T/C—likely benign
rs19984253316:90,001,130T/G—likely benign
rs36880607616:90,001,132T/C—likely benign
rs123037281916:90,001,150C/T—likely benign
rs58778450516:90,001,151G/Amissense variantpathogenic
rs254462705716:90,001,172C/A—likely pathogenic
rs122058679016:90,001,177C/G—uncertain significance
rs203039572016:90,001,179C/T—uncertain significance
rs254462707416:90,001,184G/C—uncertain significance
rs254462708616:90,001,187G/A—uncertain significance
rs53581946016:90,001,189G/A—likely benign
rs159742463216:90,001,201T/C—likely benign
rs254462710316:90,001,203C/T—uncertain significance
rs20143921416:90,001,204G/A—likely benign
rs144333050916:90,001,207C/G—likely benign
rs254462711916:90,001,209T/C—uncertain significance
rs3417471816:90,001,216G/A—conflicting classifications of pathogenicity
rs254462718416:90,001,230G/C—uncertain significance
rs254462718716:90,001,236A/C—uncertain significance
rs14537504916:90,001,240C/T—likely benign
rs215109273816:90,001,245G/A—likely pathogenic
rs74639372116:90,001,246C/T—likely benign
rs11354850416:90,001,273G/A—likely benign

Showing 100 of 285 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.