K6* (p.Lys6Ter) variant of SLC2A1 (P11166)
K6* (p.Lys6Ter) in SLC2A1 (P11166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- rs2525084740
- ClinGen CA339965866
- ClinVar RCV002468683
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)