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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.
C278fs frameshift loss of function - predicted STK11 C278fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 278 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). C278fs has not been characterized, however, due to the effects of truncation mutations downstream of C278 (PMID: 23612973), C278fs is predicted to lead to a loss of Stk11 protein function.
E57fs frameshift loss of function - predicted STK11 E57fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 57 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). E57fs has not been characterized however, due to the effects of other truncation mutations downstream of E57 (PMID: 23612973), E57fs is predicted to lead to a loss of Stk11 protein function.
K48fs frameshift loss of function - predicted STK11 K48fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 48 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). K48fs has not been characterized however, due to the effects of other truncation mutations downstream of K48 (PMID: 23612973), K48fs is predicted to lead to a loss of Stk11 protein function.
L263fs frameshift loss of function STK11 L263fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 263 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). L263fs confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571).
P281fs frameshift loss of function - predicted STK11 P281fs likely results in a premature truncation of the Stk11 protein at amino acid 281 of 433 (UniProt.org). STK11 P281fs has not been characterized, however, due to the effects of truncation mutations downstream of P281 (PMID: 23612973), P281fs is predicted to lead to a loss of Stk11 protein function.
V320fs frameshift unknown STK11 V320fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 320 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). V320fs has been identified in sequencing studies (PMID: 28884744, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).