K156E (p.Lys156Glu) variant of EZH2 (Q15910)
K156E (p.Lys156Glu) in EZH2 (Q15910) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WVS. The record also includes published literature and structural context.
K156E (p.Lys156Glu) variant details
- p.Lys156Glu
- UniProt VAR 078322
- Pathogenic
- in WVS
- Missense
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. (PMID 22190405)
- Cited in: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)