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Gene Symbol STK11
Synonyms hLKB1 | LKB1 | PJS
Gene Description STK11, serine/threonine kinase 11, is a tumor suppressor (PMID: 30562755) involved in cell metabolism, growth, polarity, and tumor suppression through the regulation of AMPK family members (PMID: 26398719). STK11 germline mutations are common in Peutz-Jeghers syndrome and somatic STK11 mutations have been identified in melanoma, lung, pancreatic, cervical, and endometrial cancers (PMID: 26877140, PMID: 29191602) and are often associated with resistance to immune checkpoint blockcade (PMID: 30626603).
ACMG Incidental List v2.0:
Yes, Peutz-Jeghers syndrome (PMID: 27854360)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function STK11 inact mut indicates that this variant results in a loss of function of the Stk11 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown STK11 mutant indicates an unspecified mutation in the STK11 gene.