Q110* (p.Gln110Ter) variant of SPI1 (Transcription factor PU.1)
Q110* (p.Gln110Ter) in SPI1 (Transcription factor PU.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q110* (p.Gln110Ter) variant details
- p.Gln110Ter
- rs2142884393
- ClinGen CA380352265
- ClinVar RCV001353142
- ClinVar RCV001819971
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. (PMID 33951726)