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Gene Symbol STAG2
Synonyms bA517O1.1 | MKMS | NEDXCF | SA-2 | SA2 | SCC3B
Gene Description STAG2, cohesin subunit SA-2, functions as part of the cohesin complex to regulate spindle formation and sister chromatid association in mitosis (PMID: 12034751, PMID: 24854081, PMID: 29175904). Somatic STAG2 mutations have been reported in glioblastoma, Ewing's sarcoma, bladder cancer, and melanoma, and loss of Stag2 expression has been demonstrated in a variety of other tumor types, including bladder cancer (PMID: 22668012, PMID: 28627627, PMID: 27207471, PMID: 29954776).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A300V missense unknown STAG2 A300V lies within the SCD domain of the Stag2 protein (UniProt.org). A300V has been identified in sequencing studies (PMID: 24997986, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
A532V missense unknown STAG2 A532V does not lie within any known functional domains of the Stag2 protein (UniProt.org). A532V has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
A998T missense unknown STAG2 A998T does not lie within any known functional domains of the Stag2 protein (UniProt.org). A998T has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
A998V missense unknown STAG2 A998V does not lie within any known functional domains of the Stag2 protein (UniProt.org). A998V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
amp none no effect STAG2 amplification indicates an increased number of copies of the STAG2 gene. However, the mechanism causing the increase is unspecified.
C308R missense unknown STAG2 C308R lies within the SCD domain of the Stag2 protein (UniProt.org). C308R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
C527F missense unknown STAG2 C527F does not lie within any known functional domains of the Stag2 protein (UniProt.org). C527F has been identified in sequencing studies (PMID: 27323954), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
C869R missense unknown STAG2 C869R does not lie within any known functional domains of the Stag2 protein (UniProt.org). C869R has been identified in sequencing studies (PMID: 22820256), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D1055N missense unknown STAG2 D1055N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D1055N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D1197N missense unknown STAG2 D1197N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D1197N has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D153N missense unknown STAG2 D153N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D153N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D193N missense loss of function - predicted STAG2 D193N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D193N is predicted to confer a loss of function to the Stag2 protein as demonstrated by decreased binding to Rad21 and Smc1a in culture (PMID: 27500726).
D385Y missense unknown STAG2 D385Y does not lie within any known functional domains of the Stag2 protein (UniProt.org). D385Y has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D486N missense unknown STAG2 D486N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D486N has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D610G missense unknown STAG2 D610G does not lie within any known functional domains of the Stag2 protein (UniProt.org). D610G has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
D793K missense loss of function STAG2 D793K lies within a site IV binding region to Rad21 within the Stag2 protein (PMID: 25173175). D793K confers a loss of function on the Stag2 protein as demonstrated by loss of Rad21 and Sgo1 binding and the inability to rescue premature sister- chromatid separation and mitotic arrest (PMID: 25173175).
dec exp none no effect STAG2 dec exp indicates decreased expression of the Stag2 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E1005D missense unknown STAG2 E1005D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E1005D has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E1005K missense no effect - predicted STAG2 E1005K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E1005K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
E1107* nonsense unknown STAG2 E1107* results in a premature truncation of the Stag2 protein at amino acid 1107 of 1231 (UniProt.org). E1107* has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E134D missense unknown STAG2 E134D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E134D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E251A missense unknown STAG2 E251A does not lie within any known functional domains of the Stag2 protein (UniProt.org). E251A has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E276D missense unknown STAG2 E276D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E276D has been identified in sequencing studies (PMID: 22895193, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E276K missense no effect - predicted STAG2 E276K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E276K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
E342K missense no effect - predicted STAG2 E342K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E342K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
E523* nonsense loss of function - predicted STAG2 E523* results in a premature truncation of the Stag2 protein at amino acid 523 of 1231 (UniProt.org). E523* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of E523 (PMID: 26871722, PMID: 21852505), E523* is predicted to lead to a loss of Stag2 protein function.
E523K missense no effect - predicted STAG2 E523K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E523K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
E606A missense unknown STAG2 E606A does not lie within any known functional domains of the Stag2 protein (UniProt.org). E606A has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Nov 2019).
E675D missense unknown STAG2 E675D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E675D has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E721V missense unknown STAG2 E721V does not lie within any known functional domains of the Stag2 protein (UniProt.org). E721V has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E727D missense unknown STAG2 E727D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E727D has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
E950* nonsense unknown STAG2 E950* results in a premature truncation of the Stag2 protein at amino acid 950 of 1231 (UniProt.org). E950* has been identified in sequencing studies (PMID: 28481359, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
H217R missense unknown STAG2 H217R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H217R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
H698R missense unknown STAG2 H698R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H698R has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
H73Y missense unknown STAG2 H73Y does not lie within any known functional domains of the Stag2 protein (UniProt.org). H73Y has been identified in sequencing studies (PMID: 29501732), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
H832R missense unknown STAG2 H832R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H832R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
I201M missense unknown STAG2 I201M does not lie within any known functional domains of the Stag2 protein (UniProt.org). I201M has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
I522F missense unknown STAG2 I522F does not lie within any known functional domains of the Stag2 protein (UniProt.org). I522F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
I829N missense unknown STAG2 I829N does not lie within any known functional domains of the Stag2 protein (UniProt.org). I829N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
I855T missense unknown STAG2 I855T does not lie within any known functional domains of the Stag2 protein (UniProt.org). I855T has been identified in sequencing studies (PMID: 21822268, PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
I910R missense unknown STAG2 I910R does not lie within any known functional domains of the Stag2 protein (UniProt.org). I910R has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
K290E missense no effect - predicted STAG2 K290E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K290E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
K330E missense loss of function - predicted STAG2 K330E lies within an SCD domain of the Stag2 protein (UniProt.org). K330E is predicted to confer a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding (PMID: 25173175).
K346E missense no effect - predicted STAG2 K346E lies within the SCD domain of the Stag2 protein (UniProt.org). K346E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
K363E missense no effect - predicted STAG2 K363E lies within the SCD domain of the Stag2 protein (UniProt.org). K363E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
K870E missense loss of function - predicted STAG2 K870E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K870E is predicted to confer a loss of function to the Stag2 protein as demonstrated by reduced Sgo1 binding (PMID: 25173175).
K887E missense unknown STAG2 K887E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K887E has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
K901E missense no effect - predicted STAG2 K901E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K901E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
K92N missense unknown STAG2 K92N does not lie within any known functional domains of the Stag2 protein (UniProt.org). K92N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
K949N missense unknown STAG2 K949N does not lie within any known functional domains of the Stag2 protein (UniProt.org). K949N has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L221M missense unknown STAG2 L221M does not lie within any known functional domains of the Stag2 protein (UniProt.org). L221M has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L235Q missense unknown STAG2 L235Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). L235Q has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L237I missense unknown STAG2 L237I does not lie within any known functional domains of the Stag2 protein (UniProt.org). L237I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L366A missense no effect - predicted STAG2 L366A lies within the SCD domain of the Stag2 protein (UniProt.org). L366A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
L405I missense unknown STAG2 L405I does not lie within any known functional domains of the Stag2 protein (UniProt.org). L405I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L526F missense unknown STAG2 L526F does not lie within any known functional domains of the Stag2 protein (UniProt.org). L526F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L571P missense unknown STAG2 L571P does not lie within any known functional domains of the Stag2 protein (UniProt.org). L571P has been identified in sequencing studies (PMID: 28855357), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L858P missense unknown STAG2 L858P does not lie within any known functional domains of the Stag2 protein (UniProt.org). L858P has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L961R missense unknown STAG2 L961R does not lie within any known functional domains of the Stag2 protein (UniProt.org). L961R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
L997F missense unknown STAG2 L997F does not lie within any known functional domains of the Stag2 protein (UniProt.org). L997F has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
M224I missense unknown STAG2 M224I does not lie within any known functional domains of the Stag2 protein (UniProt.org). M224I has been identified in sequencing studies (PMID: 28481359, PMID: 28098136), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
M796A missense no effect - predicted STAG2 M796A does not lie within any known functional domains of the Stag2 protein (UniProt.org). M796A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
mutant unknown unknown STAG2 mutant indicates an unspecified mutation in the STAG2 gene.
N357fs frameshift loss of function STAG2 N357fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 357 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). N357fs results in a loss of Stag2 protein expression and defective sister chromatid cohesion and is associated with chromosomal instability in cell culture (PMID: 21852505).
N412H missense unknown STAG2 N412H does not lie within any known functional domains of the Stag2 protein (UniProt.org). N412H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
negative unknown loss of function STAG2 negative indicates a lack of the STAG2 gene, mRNA, and/or protein.
P160L missense unknown STAG2 P160L does not lie within any known functional domains of the Stag2 protein (UniProt.org). P160L has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
P572S missense unknown STAG2 P572S does not lie within any known functional domains of the Stag2 protein (UniProt.org). P572S has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
P987Q missense unknown STAG2 P987Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). P987Q has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
P987T missense unknown STAG2 P987T does not lie within any known functional domains of the Stag2 protein (UniProt.org). P987T has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Q1029* nonsense unknown STAG2 Q1029* results in a premature truncation of the Stag2 protein at amino acid 1029 of 1231 (UniProt.org). Q1029* has been identified in sequencing studies (PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Q185* nonsense loss of function - predicted STAG2 Q185* results in a premature truncation of the Stag2 protein at amino acid 185 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q185* is predicted to lead to a loss of Stag2 protein function.
Q185H missense unknown STAG2 Q185H does not lie within any known functional domains of the Stag2 protein (UniProt.org). Q185H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Q278E missense unknown STAG2 Q278E does not lie within any known functional domains of the Stag2 protein (UniProt.org). Q278E has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Q593* nonsense loss of function - predicted STAG2 Q593* results in a premature truncation of the Stag2 protein at amino acid 593 of 1231 (UniProt.org). Q593* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of Q593 (PMID: 26871722, PMID: 21852505), and altered cell proliferation in Q593* expressing cell lines (PMID: 29649003), Q593* is predicted to lead to a loss of Stag2 protein function.
R1012* nonsense unknown STAG2 R1012* results in a premature truncation of the Stag2 protein at amino acid 1012 of 1231 (UniProt.org). R1012* has been identified in sequencing studies (PMID: 29471115, PMID: 27288520, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R1033* nonsense unknown STAG2 R1033* results in a premature truncation of the Stag2 protein at amino acid 1033 of 1231 (UniProt.org). R1033* has been identified in sequencing studies (PMID: 27881874, PMID: 27276561, PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R1045* nonsense unknown STAG2 R1045* results in a premature truncation of the Stag2 protein at amino acid 1045 of 1231 (UniProt.org). R1045* has been identified in sequencing studies (PMID: 27276561, PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R1045Q missense unknown STAG2 R1045Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R1045Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R110* nonsense loss of function - predicted STAG2 R110* results in a premature truncation of the Stag2 protein at amino acid N of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R110* is predicted to lead to a loss of Stag2 protein function.
R137I missense unknown STAG2 R137I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R137I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R184W missense unknown STAG2 R184W does not lie within any known functional domains of the Stag2 protein (UniProt.org). R184W has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Nov 2019).
R213E missense no effect - predicted STAG2 R213E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R213E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R213T missense unknown STAG2 R213T does not lie within any known functional domains of the Stag2 protein (UniProt.org). R213T has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R216* nonsense loss of function - predicted STAG2 R216* results in a premature truncation of the Stag2 protein at amino acid 216 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R216* is predicted to lead to a loss of Stag2 protein function.
R216Q missense unknown STAG2 R216Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R216Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R252Q missense unknown STAG2 R252Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R252Q has been identified in sequencing studies (PMID: 28481359, PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R259* nonsense loss of function - predicted STAG2 R259* results in a premature truncation of the Stag2 protein at amino acid 259 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R259* is predicted to lead to a loss of Stag2 protein function.
R298C missense unknown STAG2 R298C lies within the SCD domain of the Stag2 protein (UniProt.org). R298C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R298E missense loss of function STAG2 R298E lies within an SCD domain of the Stag2 protein (UniProt.org). R298E confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
R305L missense unknown STAG2 R305L lies within the SCD domain of the Stag2 protein (UniProt.org). R305L has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R370E missense no effect - predicted STAG2 R370E lies within the SCD domain of the Stag2 protein (UniProt.org). R370E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R370G missense unknown STAG2 R370G lies within the SCD domain of the Stag2 protein (UniProt.org). R370G has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R370Q missense unknown STAG2 R370Q lies within the SCD domain of the Stag2 protein (UniProt.org). R370Q has been identified in sequencing studies (PMID: 24056718, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R370W missense unknown STAG2 R370W lies within the SCD domain of the Stag2 protein (UniProt.org). R370W has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R439H missense unknown STAG2 R439H does not lie within any known functional domains of the Stag2 protein (UniProt.org). R439H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R541K missense unknown STAG2 R541K does not lie within any known functional domains of the Stag2 protein (UniProt.org). R541K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R560E missense no effect - predicted STAG2 R560E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R560E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R560W missense unknown STAG2 R560W does not lie within any known functional domains of the Stag2 protein (UniProt.org). R560W has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R604* nonsense loss of function - predicted STAG2 R604* results in a premature truncation of the Stag2 protein at amino acid 604 of 1231 (UniProt.org). R604* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of R604 (PMID: 26871722, PMID: 21852505), R604* is predicted to lead to a loss of Stag2 function.
R614* nonsense loss of function - predicted STAG2 R614* results in a premature truncation of the Stag2 protein at amino acid 614 of 1231 (UniProt.org). R614* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of R614 (PMID: 26871722, PMID: 21852505), R614* is predicted to lead to a loss of Stag2 function.
R654I missense unknown STAG2 R654I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R654I has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R69Q missense unknown STAG2 R69Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R69Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R861K missense unknown STAG2 R861K does not lie within any known functional domains of the Stag2 protein (UniProt.org). R861K has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
R862I missense unknown STAG2 R862I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R862I has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Nov 2019).
R908E missense no effect - predicted STAG2 R908E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R908E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R954H missense unknown STAG2 R954H does not lie within any known functional domains of the Stag2 protein (UniProt.org). R954H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
S1058* nonsense unknown STAG2 S1058* results in a premature truncation of the Stag2 protein at amino acid 1058 of 1231 (UniProt.org). S1058* has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
S105L missense unknown STAG2 S105L does not lie within any known functional domains of the Stag2 protein (UniProt.org). S105L has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
S156G missense unknown STAG2 S156G does not lie within any known functional domains of the Stag2 protein (UniProt.org). S156G has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Nov 2019).
S219G missense unknown STAG2 S219G does not lie within any known functional domains of the Stag2 protein (UniProt.org). S219G has been identified in sequencing studies (PMID: 23797736), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Oct 2019).
S419* nonsense loss of function - predicted STAG2 S419* results in a premature truncation of the Stag2 protein at amino acid 419 of 1231 (UniProt.org). S419* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of S419 (PMID: 26871722, PMID: 21852505), S419* is predicted to lead to a loss of Stag2 protein function.
S653* nonsense loss of function STAG2 S653* results in a premature truncation of the Stag2 protein at amino acid 653 of 1231 (UniProt.org). S653* results in a loss of Stag2 protein expression and defective sister chromatid cohesion, and is associated with chromosomal instability in cell culture (PMID: 21852505).
S704L missense unknown STAG2 S704L does not lie within any known functional domains of the Stag2 protein (UniProt.org). S704L has been identified in sequencing studies (PMID: 29501732), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
T1027A missense unknown STAG2 T1027A does not lie within any known functional domains of the Stag2 protein (UniProt.org). T1027A has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
T626fs frameshift loss of function - predicted STAG2 T626fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 626 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). T626fs has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of T626 (PMID: 26871722, PMID: 21852505), T626fs is predicted to lead to a loss of Stag2 function.
T966K missense unknown STAG2 T966K does not lie within any known functional domains of the Stag2 protein (UniProt.org). T966K has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
V181A missense unknown STAG2 V181A does not lie within any known functional domains of the Stag2 protein (UniProt.org). V181A has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
V181L missense unknown STAG2 V181L does not lie within any known functional domains of the Stag2 protein (UniProt.org). V181L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
V465F missense unknown STAG2 V465F does not lie within any known functional domains of the Stag2 protein (UniProt.org). V465F has been identified in sequencing studies (PMID: 27923066), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
V620L missense unknown STAG2 V620L does not lie within any known functional domains of the Stag2 protein (UniProt.org). V620L has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
V783F missense unknown STAG2 V783F does not lie within any known functional domains of the Stag2 protein (UniProt.org). V783F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
W102* nonsense loss of function - predicted STAG2 W102* results in a premature truncation of the Stag2 protein at amino acid 102 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W102* is predicted to lead to a loss of Stag2 protein function.
W334A missense loss of function STAG2 W334A lies within an SCD domain of the Stag2 protein (UniProt.org). W334A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
W706G missense unknown STAG2 W706G does not lie within any known functional domains of the Stag2 protein (UniProt.org). W706G has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
W706L missense unknown STAG2 W706L does not lie within any known functional domains of the Stag2 protein (UniProt.org). W706L has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Y297A missense loss of function STAG2 Y297A lies within an SCD domain of the Stag2 protein (UniProt.org). Y297A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
Y331A missense loss of function STAG2 Y331A lies within an SCD domain of the Stag2 protein (UniProt.org). Y331A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
Y414F missense unknown STAG2 Y414F does not lie within any known functional domains of the Stag2 protein (UniProt.org). Y414F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Sep 2019).
Y479A missense no effect - predicted STAG2 Y479A does not lie within any known functional domains of the Stag2 protein (UniProt.org). Y479A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
Y594* nonsense loss of function - predicted STAG2 Y594* results in a premature truncation of the Stag2 protein at amino acid 594 of 1231 (UniProt.org). Y594* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of Y594 (PMID: 26871722, PMID: 21852505), Y594* is predicted to lead to a loss of Stag2 protein function.
Y636* nonsense loss of function - predicted STAG2 Y636* results in a premature truncation of the Stag2 protein at amino acid 636 of 1231 (UniProt.org). Y636* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of Y636 (PMID: 26871722, PMID: 21852505), Y636* is predicted to lead to a loss of Stag2 protein function.