Q8* (p.Gln8Ter) variant of TUBB2B (Tubulin beta-2B chain)
Q8* (p.Gln8Ter) in TUBB2B (Tubulin beta-2B chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- rs2533621477
- ClinGen CA362590410
- ClinVar RCV003444491
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)