rs121918459
This is a variant in the PTPN11 gene that changes a tyrosine to an cysteine.
▶ClinVar annotation
B lymphoblastic leukemia lymphoma, no ICD-O subtype; Hereditary cancer-predisposing syndrome; Juvenile myelomonocytic leukemia (JMML); LEOPARD syndrome 1 (LPRD1); Lymphoma; Metachondromatosis (METCDS); Noonan syndrome (NS); Noonan syndrome 1 (NS1); Noonan syndrome 3 (NS3); Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder; RASopathy
View on ClinVar →About PTPN11
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
View all PTPN11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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