Q2* (p.Gln2Ter) variant of PAX6 (Paired box protein Pax-6)
Q2* (p.Gln2Ter) in PAX6 (Paired box protein Pax-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs2496627345
- ClinGen CA379960116
- ClinVar RCV003062356
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.0045
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)