L39W (p.Leu39Trp) variant of MEN1 (Menin)
L39W (p.Leu39Trp) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MEN1. The record also includes published literature and structural context.
L39W (p.Leu39Trp) variant details
- p.Leu39Trp
- UniProt VAR 005428
- Pathogenic
- in MEN1
- Missense
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding. (PMID 10849016)
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)