E76* (p.Glu76Ter) variant of ETV6 (Transcription factor ETV6)
E76* (p.Glu76Ter) in ETV6 (Transcription factor ETV6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- rs121434637
- ClinGen CA280127
- ClinVar RCV000009547
- Ensembl rs121434637
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. (PMID 15806161)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)