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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
A205T missense loss of function STK11 A205T lies within the protein kinase domain of the Stk11 protein (UniProt.org). A205T results in decreased Stk11 kinase activity and loss of growth inhibition in cell culture (PMID: 16407837).
A218Sfs*42 frameshift loss of function - predicted STK11 A218Sfs*42 indicates a shift in the reading frame starting at amino acid 218 and terminating 42 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). A218Sfs*42 has not been characterized, however, due to the effects of truncation mutations downstream of A218 (PMID: 23612973), A218Sfs*42 is predicted to lead to a loss of Stk11 protein function.
A241P missense unknown STK11 A241P lies within the protein kinase domain of the Stk11 protein (UniProt.org). A241P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
A377P missense unknown STK11 A377P lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A377P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
A389T missense unknown STK11 A389T lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A389T has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
amp none no effect STK11 amplification indicates an increased number of copies of the STK11 gene. However, the mechanism causing the increase is unspecified.
C132F missense unknown STK11 C132F lies within the protein kinase domain of the Stk11 protein (UniProt.org). C132F has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
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.
D176A missense unknown STK11 D176A lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176A has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2019).
D176H missense unknown STK11 D176H lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2019).
D176N missense loss of function - predicted STK11 D176N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176N is predicted to confer a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity (PMID: 9837816).
D176Y missense loss of function - predicted STK11 D176Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176Y is predicted to confer a loss of function to the Stk11 protein, as demonstrated by the inability to activate downstream kinase, Ampk (PMID: 19892943).
D194E missense loss of function - predicted STK11 D194E lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194E has not been biochemically characterized, but is associated with Peutz-Jehgers syndrome and is predicted to result in a loss of Stk11 protein function (PMID: 21189378).
D194H missense unknown STK11 D194H lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194H has been identified in the scientific literature (PMID: 21816872), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
D194N missense unknown STK11 D194N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194N has not been characterized, but is predicted to result in a change of Stk11 binding energy based on computer modeling, thus, possibly resulting in a loss of enzyme function (PMID: 27081308).
D194Y missense loss of function - predicted STK11 D194Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194Y is predicted to confer a dominant negative loss of function to the Stk11 protein as demonstrated by the ability to suppress Ampk signaling (http://cancerres.aacrjournals.org/content/74/19_Supplement/4159.abstract).
D207Gfs*59 frameshift loss of function - predicted STK11 D207Gfs*59 indicates a shift in the reading frame starting at amino acid 207 and terminating 59 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D207Gfs*59 has not been characterized, however, due to the effects of truncation mutations downstream of D207 (PMID: 23612973), D207Gfs*59 is predicted to lead to a loss of Stk11 protein function.
D237N missense unknown STK11 D237N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D237N has been identified in sequencing studies (PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
D237Y missense unknown STK11 D237Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D237Y has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
D277Y missense loss of function - predicted STK11 D277Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D277Y is predicted to confer a loss of function to the Stk11 protein, as demonstrated by reduced activation of the downstream kinase, Ampk (PMID: 19892943).
D30N missense loss of function STK11 D30N does not lie within any known functional domains of the Stk11 protein (UniProt.org). D30N confers a loss of function to the Stk11 protein, as demonstrated by increased phosphorylation and activation of mTOR targets, S6K1 and S6, and loss of the ability to suppress cell proliferation in culture (PMID: 29399144).
D343N missense unknown STK11 D343N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D343N has been identified in sequencing studies (PMID: 26354930, PMID: 29325035), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
D350E missense unknown STK11 D350E lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D350E has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
D355N missense unknown STK11 D355N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D355N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
D358N missense unknown STK11 D358N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D358N has been identified in sequencing studies (PMID: 26319365), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
D359Y missense unknown STK11 D359Y lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D359Y has not been characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
D53Tfs*11 frameshift loss of function - predicted STK11 D53Tfs*11 indicates a shift in the reading frame starting at amino acid 53 and terminating 11 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D53Tfs*11 has not been characterized however, due to the effects of other truncation mutations downstream of D53 (PMID: 23612973), D53Tfs*11 is predicted to lead to a loss of Stk11 protein function.
dec exp none no effect STK11 dec exp indicates decreased expression of the Stk11 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified
E120* nonsense loss of function - predicted STK11 E120* results in a premature truncation of the Stk11 protein at amino acid 120 of 433 (UniProt.org). E120* has not been characterized however, due to the effects of other truncation mutations downstream of E120 (PMID: 23612973), E120* is predicted to lead to a loss of Stk11 protein function.
E121* nonsense loss of function - predicted STK11 E121* results in a premature truncation of the Stk11 protein at amino acid 121 of 433 (UniProt.org). E121* has not been characterized however, due to the effects of other truncation mutations downstream of E121 (PMID: 23612973), E121* is predicted to lead to a loss of Stk11 protein function.
E138* nonsense loss of function - predicted STK11 E138* results in a premature truncation of the Stk11 protein at amino acid 138 of 433 (UniProt.org). E138* has not been characterized however, due to the effects of other truncation mutations downstream of E138 (PMID: 23612973), E138* is predicted to lead to a loss of Stk11 protein function.
E165* nonsense loss of function - predicted STK11 E165* results in a premature truncation of the Stk11 protein at amino acid 165 of 433 (UniProt.org). E165* has not been characterized, however, due to the effects of truncation mutations downstream of E165 (PMID: 23612973), E165* is predicted to lead to a loss of Stk11 protein function.
E199* nonsense loss of function - predicted STK11 E199* results in a premature truncation of the Stk11 protein at amino acid 199 of 433 (UniProt.org). E199* has not been characterized, however, due to the effects of truncation mutations downstream of E199 (PMID: 23612973), E199* is predicted to lead to a loss of Stk11 protein function.
E199K missense loss of function - predicted STK11 E199K lies within the protein kinase domain of the Stk11 protein (UniProt.org). E199K is predicted to confer a loss of function to the Stk11 protein, as demonstrated by reduced activation of the downstream kinase Ampk in an in vitro assay (PMID: 19892943).
E199Q missense no effect - predicted STK11 E199Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). E199Q demonstrates kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943) and therefore, is predicted to have no effect on Stk11 protein function.
E223* nonsense loss of function - predicted STK11 E223* results in a premature truncation of the Stk11 protein at amino acid 223 of 433 (UniProt.org). E223* has been identified in the scientific literature (PMID: 25376516), but has not been characterized, however due to the effects of truncation mutations downstream of E223 (PMID: 23612973), E223* is predicted to lead to a loss of Stk11 protein function.
E223V missense loss of function - predicted STK11 E223V lies within the protein kinase domain of the Stk11 protein (UniProt.org). E223V is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase Ampk (PMID: 19892943).
E317* nonsense unknown STK11 E317* results in a premature truncation of the Stk11 protein at amino acid 317 of 433 (UniProt.org). E317* has been identified in the scientific literature (PMID: 31658955), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Jan 2020).
E317K missense unknown STK11 E317K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). E317K has not been characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
E33* nonsense loss of function - predicted STK11 E33* results in a premature truncation of the Stk11 protein at amino acid 33 of 433 (UniProt.org). E33* has not been characterized however, due to the effects of other truncation mutations downstream of E33 (PMID: 23612973), E33* is predicted to lead to a loss of Stk11 protein function.
E357K missense unknown STK11 E357K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). E357K has been identified in sequencing studies (PMID: 28642281), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
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.
E57Sfs*107 frameshift loss of function - predicted STK11 E57Sfs*107 indicates a shift in the reading frame starting at amino acid 57 and terminating 107 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). E57Sfs*107 has not been characterized however, due to the effects of other truncation mutations downstream of E57 (PMID: 23612973), E57Sfs*107 is predicted to lead to a loss of Stk11 protein function.
E65* nonsense loss of function - predicted STK11 E65* results in a premature truncation of the Stk11 protein at amino acid 65 of 433 (UniProt.org). E65* results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
E70* nonsense loss of function - predicted STK11 E70* results in a premature truncation of the Stk11 protein at amino acid 70 of 433 (UniProt.org). E70* has not been characterized however, due to the effects of other truncation mutations downstream of E70 (PMID: 23612973), E70* is predicted to lead to a loss of Stk11 protein function.
E98_G155del deletion loss of function STK11 E98_G155del results in the deletion of 58 amino acids in the protein kinase domain of the Stk11 protein from amino acids 98 to 155 (UniProt.org). E98_G155del 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).
F157S missense loss of function - predicted STK11 F157S lies within the protein kinase domain of the Stk11 protein (UniProt.org). F157S is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
F298L missense unknown STK11 F298L lies within the protein kinase domain of the Stk11 protein (UniProt.org). F298L has been identified in the scientific literature (PMID: 27615706), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
F309* nonsense loss of function STK11 F309* results in a premature truncation of the Stk11 protein at amino acid 309 of 433 (UniProt.org). F309* results in loss of Stk11 kinase activity and reduced phosphorylation of Ampk and its downstream effectors in in vitro assays (PMID: 23612973).
F354L missense loss of function STK11 F354L lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). F354L does not disrupt Stk11 autophosphorylation or growth suppression by Stk11, but results in decreased AMPK phosphorylation and increased mTOR signaling, and alters cell polarization in culture (PMID: 15800014).
G163D missense loss of function - predicted STK11 G163D lies within the protein kinase domain of the Stk11 protein (UniProt.org). G163D is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
G171S missense loss of function - predicted STK11 G171S lies within the protein kinase domain of the Stk11 protein (UniProt.org). G171S is predicted to confer a loss of function to the Stk11 protein, as demonstrated by reduced activation of the downstream kinase, Ampk (PMID: 19892943).
G196V missense unknown STK11 G196V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G196V has been identified in the scientific literature (PMID: 29184675), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G242V missense unknown STK11 G242V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242V is predicted to lead to a loss of catalytic activity based on structural modeling (PMID: 29447078), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
G242W missense unknown STK11 G242W lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242W has been identified in the scientific literature (PMID: 11389158), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G251C missense unknown STK11 G251C lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251C has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Feb 2020).
G251F missense unknown STK11 G251F lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251F has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G251V missense unknown STK11 G251V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251V has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G288S missense no effect - predicted STK11 G288S lies within the protein kinase domain of the Stk11 protein (UniProt.org). G288S results in Tp53 activation to similar levels of wild-type Stk11 protein in culture and therefore, is predicted to have no effect on Stk11 protein function (PMID: 30092773).
G56Tfs*4 frameshift loss of function - predicted STK11 G56Tfs*4 indicates a shift in the reading frame starting at amino acid 56 and terminating 4 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G56Tfs*4 has not been characterized however, due to the effects of other truncation mutations downstream of G56 (PMID: 23612973), G56Tfs*4 is predicted to lead to a loss of Stk11 protein function.
G56V missense unknown STK11 G56V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G56V has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G56W missense unknown STK11 G56W lies within the protein kinase domain of the Stk11 protein (UniProt.org). G56W has been identified in sequencing studies (PMID: 25234657), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
G61Afs*3 frameshift loss of function - predicted STK11 G61Afs*3 indicates a shift in the reading frame starting at amino acid 61 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G61Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of G61 (PMID: 23612973), G61Afs*3 is predicted to lead to a loss of Stk11 protein function.
H107L missense unknown STK11 H107L lies within the protein kinase domain of the Stk11 protein (UniProt.org). H107L has been identified in sequencing studies (PMID: 28884744), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
H168R missense unknown STK11 H168R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H168R has been identified in sequencing studies (PMID: 25567908), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
H174D missense unknown STK11 H174D lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
H174R missense loss of function - predicted STK11 H174R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174R is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
H174Y missense unknown STK11 H174Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174Y has been identified in sequencing studies (PMID: 24292813), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I111N missense unknown STK11 I111N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I111N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I177N missense loss of function STK11 I177N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I177N confers a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943), lack of autophosphorylation, loss of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571).
I177T missense unknown STK11 I177T lies within the protein kinase domain of the Stk11 protein (UniProt.org). I177T has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I248T missense unknown STK11 I248T lies within the protein kinase domain of the Stk11 protein (UniProt.org). I248T has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I303N missense unknown STK11 I303N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I303N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I303S missense unknown STK11 I303S lies within the protein kinase domain of the Stk11 protein (UniProt.org). I303S has been identified in sequencing studies (PMID: 24185509), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
I35Lfs*127 frameshift loss of function - predicted STK11 I35Lfs*127 indicates a shift in the reading frame starting at amino acid 35 and terminating 127 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). I35Lfs*127 has not been characterized however, due to the effects of other truncation mutations downstream of I35 (PMID: 23612973), I35Lfs*127 is predicted to lead to a loss of Stk11 protein function.
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.
K175_D176del deletion loss of function STK11 K175_D176del results in the deletion of 2 amino acids in the protein kinase domain of the Stk11 protein from amino acids 175 to 176 (UniProt.org). K175_D176del confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation and the inability to suppress growth of cells in culture (PMID: 12552571).
K41* nonsense loss of function - predicted STK11 K41* results in a premature truncation of the Stk11 protein at amino acid 41 of 433 (UniProt.org). K41* has not been characterized however, due to the effects of other truncation mutations downstream of K41 (PMID: 23612973), K41* is predicted to lead to a loss of Stk11 protein function.
K44* nonsense loss of function - predicted STK11 K44* results in a premature truncation of the Stk11 protein at amino acid 44 of 433 (UniProt.org). K44* has not been characterized however, due to the effects of other truncation mutations downstream of K44 (PMID: 23612973), K44* 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.
K62* nonsense loss of function - predicted STK11 K62* results in a premature truncation of the Stk11 protein at amino acid 62 of 433 (UniProt.org). K62* has not been characterized however, due to the effects of other truncation mutations downstream of K62 (PMID: 23612973), K62* is predicted to lead to a loss of Stk11 protein function.
K62Sfs*100 frameshift loss of function - predicted STK11 K62Sfs*100 indicates a shift in the reading frame starting at amino acid 62 and terminating 100 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K62Sfs*100 has not been characterized however, due to the effects of other truncation mutations downstream of K62 (PMID: 23612973), K62Sfs*100 is predicted to lead to a loss of Stk11 protein function.
K78A missense loss of function - predicted STK11 K78A lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78A is predicted to confer a loss of function to the Stk11 protein, as demonstrated by lack of kinase activity (PMID: 15800014).
K78E missense unknown STK11 K78E lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78E has been identified in sequencing studies (PMID: 23630207, PMID: 25234657), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
K78I missense loss of function STK11 K78I lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78I confers a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity in cell culture (PMID: 15731909, PMID: 9837816), and is considered a kinase-dead mutation (PMID: 26864623).
K78N missense unknown STK11 K78N lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78N has been identified in sequencing studies (PMID: 27767028, PMID: 29409051), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
K84* nonsense loss of function - predicted STK11 K84* results in a premature truncation of the Stk11 protein at amino acid 84 of 433 (UniProt.org). K84* results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
L160P missense unknown STK11 L160P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L160P is predicted to affect the enzyme function of Stk11 based on structural modeling (PMID: 27081308), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Feb 2020).
L182P missense loss of function - predicted STK11 L182P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L182P is predicted to lead to a loss of catalytic activity based on structural modeling (PMID: 29447078), and demonstrates reduced association with the Strad-Mo25 complex (PMID: 26212320), and therefore, is predicted to lead to a loss of Stk11 protein function.
L183V missense unknown STK11 L183V lies within the protein kinase domain of the Stk11 protein (UniProt.org). L183V has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
L195M missense unknown STK11 L195M lies within the protein kinase domain of the Stk11 protein (UniProt.org). L195M has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
L245F missense unknown STK11 L245F lies within the protein kinase domain of the Stk11 protein (UniProt.org). L245F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
L245R missense loss of function - predicted STK11 L245R lies within the protein kinase domain of the Stk11 protein (UniProt.org). L245R is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
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).
L282Afs*3 frameshift loss of function - predicted STK11 L282Afs*3 indicates a shift in the reading frame starting at amino acid 282 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L282Afs*3 has not been characterized, however, due to the effects of truncation mutations downstream of L282 (PMID: 23612973), L282Afs*3 is predicted to lead to a loss of Stk11 protein function.
L285Lfs*2 frameshift loss of function - predicted STK11 L285Lfs*2 indicates a shift in the reading frame starting at amino acid 285 and terminating 2 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L285Lfs*2 results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
L285Q missense loss of function - predicted STK11 L285Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). L285Q is predicted to confer a loss of function to the Stk11 protein, as demonstrated byits inability to activate the downstream kinase, Ampk (PMID: 19892943).
L290P missense loss of function STK11 L290P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L290P confers a loss of function to the Stk11 protein, as demonstrated by increased phosphorylation and activation of mTOR targets, S6K1 and S6, and loss of the ability to suppress cell proliferation in culture (PMID: 29399144).
L67P missense loss of function - predicted STK11 L67P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L67P is predicted to confer a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity (PMID: 9837816).
loss unknown loss of function STK11 loss indicates loss of the STK11 gene, mRNA, and protein.
M136R missense loss of function - predicted STK11 M136R lies within the protein kinase domain of the Stk11 protein (UniProt.org). M136R is predicted to confer a loss of function to the Stk11 protein, as demonstrated by loss of autophosphorylation (PMID: 14668798).
mutant unknown unknown STK11 mutant indicates an unspecified mutation in the STK11 gene.
N181E missense loss of function - predicted STK11 N181E lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181E is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
N181I missense unknown STK11 N181I lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181I has been identified in the scientific literature (PMID: 30689838), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
N181Y missense unknown STK11 N181Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181Y has been identified in sequencing studies (PMID: 15121768), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
P179Q missense unknown STK11 P179Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
P179R missense unknown STK11 P179R lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179R has been identified in sequencing studies (PMID: 28869103), but has not been characterized biochemically and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
P179S missense unknown STK11 P179S lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179S has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
P221L missense unknown STK11 P221L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P221L has been identified in sequencing studies (PMID: 22980975, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
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.
P281L missense loss of function - predicted STK11 P281L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P281L is predicted to confer a loss of function to the Stk11 protein, as indicated by a loss of kinase activity in an in vitro kinase assay (PMID: 10676634).
P281Pfs*4 frameshift loss of function - predicted STK11 P281Pfs*4 indicates a shift in the reading frame starting at amino acid 281 and terminating 4 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P281Pfs*4 results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
P281Rfs*6 frameshift loss of function - predicted STK11 P281Rfs*6 indicates a shift in the reading frame starting at amino acid 281 and terminating 6 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P281Rfs*6 results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
P294L missense unknown STK11 P294L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P294L has been identified in sequencing studies (PMID: 28350084), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
P314H missense unknown STK11 P314H lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). P314H has been identified in sequencing studies (PMID: 9809980), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
P321Hfs*38 frameshift unknown STK11 P321Hfs*38 indicates a shift in the reading frame starting at amino acid 321 and terminating 38 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P321Hfs*38 results in Tp53 activation levels similar to wild-type Stk11 protein in culture (PMID: 30092773), but has not been fully biochemically characterized and therefore, its effect on Stk11 protein function is unknown.
P369S missense unknown STK11 P369S lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). P369S has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
Q100* nonsense loss of function - predicted STK11 Q100* results in a premature truncation of the Stk11 protein at amino acid 100 of 430 (UniProt.org). Q100* has not been characterized however, due to the effects of other truncation mutations downstream of Q100 (PMID: 23612973), Q100* is predicted to lead to a loss of Stk11 protein function.
Q123* nonsense loss of function - predicted STK11 Q123* results in a premature truncation of the Stk11 protein at amino acid 123 of 433 (UniProt.org). Q123* has not been characterized however, due to the effects of other truncation mutations downstream of Q123 (PMID: 23612973), Q123* is predicted to lead to a loss of Stk11 protein function.
Q123R missense no effect STK11 Q123R lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q123R demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
Q137* nonsense loss of function - predicted STK11 Q137* results in a premature truncation of the Stk11 protein at amino acid 137 of 433 (UniProt.org). Q137* has not been characterized however, due to the effects of other truncation mutations downstream of Q137 (PMID: 23612973), Q137* is predicted to lead to a loss of Stk11 protein function.
Q159* nonsense loss of function - predicted STK11 Q159* results in a premature truncation of the Stk11 protein at amino acid 159 of 433 (UniProt.org). Q159* has not been characterized, however, due to the effects of truncation mutations downstream of Q159 (PMID: 23612973), Q159* is predicted to lead to a loss of Stk11 protein function.
Q170* nonsense loss of function - predicted STK11 Q170* results in a premature truncation of the Stk11 protein at amino acid 170 of 433 (UniProt.org). Q170* has not been characterized, however, due to the effects of truncation mutations downstream of Q170 (PMID: 23612973), Q170* is predicted to lead to a loss of Stk11 protein function.
Q170P missense loss of function - predicted STK11 Q170P lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q170P is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
Q214* nonsense loss of function - predicted STK11 Q214* results in a premature truncation of the Stk11 protein at amino acid 214 of 433 (UniProt.org). Q214* has not been characterized, however, due to the effects of truncation mutations downstream of Q214 (PMID: 23612973), Q214* is predicted to lead to a loss of Stk11 protein function.
Q220* nonsense loss of function - predicted STK11 Q220* results in a premature truncation of the Stk11 protein at amino acid 220 of 433 (UniProt.org). Q220* has not been characterized, however, due to the effects of truncation mutations downstream of Q220 (PMID: 23612973), Q220* is predicted to lead to a loss of Stk11 protein function.
Q302* nonsense loss of function - predicted STK11 Q302* results in a premature truncation of the Stk11 protein at amino acid 302 of 433 (UniProt.org). Q302* has not been characterized however, due to the effects of other truncation mutations downstream of Q302 (PMID: 23612973), Q302* is predicted to lead to a loss of Stk11 protein function.
Q364K missense unknown STK11 Q364K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). Q364K has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
Q37* nonsense loss of function - predicted STK11 Q37* results in a premature truncation of the Stk11 protein at amino acid 37 of 433 (UniProt.org). Q37* has not been characterized however, due to the effects of other truncation mutations downstream of Q37 (PMID: 23612973), Q37* is predicted to lead to a loss of Stk11 protein function.
Q37L missense unknown STK11 Q37L does not lie within any known functional domains of the Stk11 protein (UniProt.org). Q37L has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
R297S missense unknown STK11 R297S lies within the protein kinase domain of the Stk11 protein (UniProt.org). R297S is predicted to lead to a loss of catalytic activity based on structural modeling (PMID: 29447078), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
R304G missense unknown STK11 R304G lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304G has been identified in sequencing studies (PMID: 21532627), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
R304P missense no effect - predicted STK11 R304P lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304P results in Tp53 activation to similar levels of wild-type Stk11 protein in culture and therefore, is predicted to have no effect on Stk11 protein function (PMID: 30092773).
R304W missense loss of function STK11 R304W lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304W confers a loss of function to the Stk11 protein as demonstrated by loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth in culture (PMID: 12552571).
R310P missense unknown STK11 R310P lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R310P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
R333C missense unknown STK11 R333C lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R333C has been identified in sequencing studies (PMID: 27027238), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
R409W missense no effect - predicted STK11 R409W lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R409W results in Tp53 activation to similar levels of wild-type Stk11 protein in culture and therefore, is predicted to have no effect on Stk11 protein function (PMID: 30092773).
R86G missense no effect STK11 R86G lies within the protein kinase domain of the Stk11 protein (UniProt.org). R86G demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
S193F missense unknown STK11 S193F lies within the protein kinase domain of the Stk11 protein (UniProt.org). S193F has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
S19P missense unknown STK11 S19P does not lie within any known functional domains of the Stk11 protein (UniProt.org). S19P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
S19W missense no effect - predicted STK11 S19W does not lie within any known functional domains of the Stk11 protein (UniProt.org). S19W results in Tp53 activation to similar levels of wild-type Stk11 protein in culture and therefore, is predicted to have no effect on Stk11 protein function (PMID: 30092773).
S216F missense loss of function - predicted STK11 S216F lies within the protein kinase domain of the Stk11 protein (UniProt.org). S216F is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
S232P missense no effect STK11 S232P lies within the protein kinase domain of the Stk11 protein (UniProt.org). S232P demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
S240* nonsense loss of function - predicted STK11 S240* results in a premature truncation of the Stk11 protein at amino acid 240 of 433 (UniProt.org). S240* has not been characterized, however, due to the effects of truncation mutations downstream of S240 (PMID: 23612973), S240* is predicted to lead to a loss of Stk11 protein function.
S419F missense unknown STK11 S419F lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). S419F has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Sep 2019).
T230P missense no effect STK11 T230P lies within the protein kinase domain of the Stk11 protein (UniProt.org). T230P demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
T250P missense loss of function - predicted STK11 T250P lies within the protein kinase domain of the Stk11 protein (UniProt.org). T250P is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
V236A missense unknown STK11 V236A lies within the protein kinase domain of the Stk11 protein (UniProt.org). V236A has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
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).
V66M missense no effect STK11 V66M lies within the protein kinase domain of the Stk11 protein (UniProt.org). V66M demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
W239C missense unknown STK11 W239C lies within the protein kinase domain of the Stk11 protein. W239C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
W308* nonsense loss of function - predicted STK11 W308* results in a premature truncation of the Stk11 protein at amino acid 308 of 433 (UniProt.org). W308* results in Tp53 activation to similar levels of wild-type Stk11 protein in cell culture (PMID: 30092773), however, due to the effects of truncation mutations downstream of W308, which result in loss of Stk11 kinase activity and reduced Ampk phosphorylation (PMID: 23612973), W308* is predicted to lead to a loss of Stk11 protein function.
W308C missense loss of function - predicted STK11 W308C lies within the protein kinase domain of the Stk11 protein (UniProt.org). W308C is predicted to confer a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity (PMID: 9837816).
W332* nonsense unknown STK11 W332* results in a premature truncation of the Stk11 protein at amino acid 332 of 433 (UniProt.org). W332* has been identified in sequencing studies (PMID: 17711506, PMID: 28978051), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
wild-type none no effect Wild-type STK11 indicates that no mutation has been detected within the STK11 gene.
Y118* nonsense loss of function - predicted STK11 Y118* results in a premature truncation of the Stk11 protein at amino acid 118 of 433 (UniProt.org). Y118* results in decreased Tp53 activity in culture and therefore, is predicted to lead to a loss of Stk11 protein function (PMID: 30092773).
Y272H missense loss of function - predicted STK11 Y272H lies within the protein kinase domain of the Stk11 protein (UniProt.org). Y272H is predicted to confer a loss of function to the Stk11 protein, as demonstrated by reduced activation of the downstream kinase, Ampk (PMID: 19892943).
Y36D missense unknown STK11 Y36D does not lie within any known functional domains of the Stk11 protein (UniProt.org). Y36D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2020).
Y49D missense unknown STK11 Y49D lies within the protein kinase domain of the Stk11 protein (UniProt.org). Y49D is predicted to affect the enzyme function of Stk11 based on structural modeling (PMID: 27081308), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Feb 2020).
Y60* nonsense loss of function - predicted STK11 Y60* results in a premature truncation of the Stk11 protein at amino acid 60 of 433 (UniProt.org). Y60* has not been characterized however, due to the effects of other truncation mutations downstream of Y60* (PMID: 23612973), Y60* is predicted to lead to a loss of Stk11 protein function.