Q34* (p.Gln34Ter) variant of SOX2 (Transcription factor SOX-2)
Q34* (p.Gln34Ter) in SOX2 (Transcription factor SOX-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements, published literature, and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- rs1714841256
- ClinGen CA355473116
- ClinVar RCV001195766
- ClinVar RCV001249255
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.6
- Cited in: SOX2 Disorder. (PMID 20301477)