Gene Detail

Gene Symbol MSH6
Synonyms GTBP | GTMBP | HNPCC5 | HSAP | p160
Gene Description MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v2.0:
Yes, Lynch syndrome (PMID: 27854360)
Entrez Id 2956
Chromosome 2
Map Location 2p16.3
Canonical Transcript NM_000179

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
V878A missense unknown MSH6 V878A lies within the lever domain of the Msh6 protein (PMID: 18790734). The functional effect of V878A is conflicting, as indicated by decreased Msh6 ATPase activity (PMID: 18790734), but has also demonstrated proficient mismatch repair activity (PMID: 22102614), and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A322V missense unknown MSH6 A322V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A322V has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
F573fs frameshift loss of function - predicted MSH6 F573fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 573 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss several known functional domains, including the ATPase domain (PMID: 23391514), F573fs is predicted to lead to a loss of Msh6 protein function.
R1034Q missense unknown MSH6 R1034Q lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1034Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
D803G missense loss of function - predicted MSH6 D803G lies within the lever domain of the Msh6 protein (PMID: 18790734). D803G results in reduced affinity for ATP and decreased Msh6 ATPase activity in in vitro assays (PMID: 18790734), and is therefore predicted to result in a loss of Msh6 protein function.
D667V missense unknown MSH6 D667V does not lie within any known functional domains of the Msh6 protein (UniProt.org). D667V has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
G39W missense unknown MSH6 G39W does not lie within any known functional domains of the Msh6 protein (UniProt.org). G39W has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
I516Sfs*55 frameshift loss of function - predicted MSH6 I516Sfs*55 indicates a shift in the reading frame starting at amino acid 516 and terminating 55 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). Due to the loss several known functional domains, including the ATPase domain (PMID: 23391514), I516Sfs*55 is predicted to lead to a loss of Msh6 protein function.
E604* nonsense loss of function - predicted MSH6 E604* results in a premature truncation of the Msh6 protein at amino acid 604 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E604* is predicted to lead to a loss of Msh6 protein function.
T269S missense unknown MSH6 T269S does not lie within any known functional domains of the Msh6 protein (UniProt.org). T269S is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G141D missense unknown MSH6 G141D lies within the PWWP domain of the Msh6 protein (UniProt.org). G141D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
N897H missense unknown MSH6 N897H lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). N897H has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
P768H missense unknown MSH6 P768H lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). P768H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R178H missense unknown MSH6 R178H lies within the PWWP domain of the Msh6 protein (PMID: 23621914). R178H has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R791H missense unknown MSH6 R791H lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R791H has been identified in sequencing studies (PMID: 25233892), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
L373P missense unknown MSH6 L373P lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). L373P has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
D530Y missense unknown MSH6 D530Y lies within an Msh2-binding site of the Msh6 protein (PMID: 12019211). D530Y has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
I258T missense unknown MSH6 I258T does not lie within any known functional domains of the Msh6 protein (UniProt.org). I258T has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
C615F missense unknown MSH6 C615F lies within the connector domain of the Msh6 protein (PMID: 17531815). C615F has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
T750P missense unknown MSH6 T750P lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). T750P has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
K1358Dfs*2 frameshift unknown MSH6 K1358Dfs*2 indicates a shift in the reading frame starting at amino acid 1358 and terminating 2 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). K1358Dfs*2 has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
S285I missense no effect - predicted MSH6 S285I lies within the mismatch binding domain of the Msh6 protein (PMID: 18790734). S285I demonstrates mismatch stimulated ATPase activity similar to wild-type Msh6 protein in an in vitro ATPase assay (PMID: 18790734), and is therefore predicted to have no effect on Msh6 protein function.
C88W missense unknown MSH6 C88W does not lie within any known functional domains of the Msh6 protein (UniProt.org). C88W has been identified in sequencing studies (PMID: 22941188, PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
I872fs frameshift loss of function - predicted MSH6 I872fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 872 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). (UniProt.org). I872fs (reported as I872fs*10) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
S1067I missense unknown MSH6 S1067I lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). S1067I has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
P781T missense unknown MSH6 P781T lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). P781T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
E619* nonsense loss of function - predicted MSH6 E619* results in a premature truncation of the Msh6 protein at amino acid 619 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E619* is predicted to lead to a loss of Msh6 protein function.
K1358fs frameshift unknown MSH6 K1358fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1358 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). K1358fs has been identified in the scientific literature (PMID: 26436112), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
mutant unknown unknown MSH6 mutant indicates an unspecified mutation in the MSH6 gene.
E544fs frameshift loss of function - predicted MSH6 E544fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 397 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). E544fs (reported as E544fs*26) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
P1087T missense no effect MSH6 P1087T lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1087T demonstrates binding to Msh2 and in vitro mismatch repair activity similar to wild-type Msh6 (PMID: 12019211, PMID: 21120944).
R1331* nonsense unknown MSH6 R1331* results in a premature truncation of the Msh6 protein at amino acid 1331 of 1360 (UniProt.org). R1331* has been identified in the scientific literature (PMID: 26552419, PMID: 16418736), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
S677I missense unknown MSH6 S677I lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). S677I has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R959H missense unknown MSH6 R959H lies within the MutS domain 4 of the Msh6 protein (PMID: 23621914). R959H has been identified in sequencing studies (PMID: 26648449, PMID: 29596542), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G1299D missense unknown MSH6 G1299D lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1299D has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
F1088Lfs*5 frameshift unknown MSH6 F1088Lfs*5 indicates a shift in the reading frame starting at amino acid 1088 and terminating 5 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). F1088Lfs*5 has been identified in sequencing studies (PMID: 29945567, PMID: 28790115), but not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E463* nonsense loss of function - predicted MSH6 E463* results in a premature truncation of the Msh6 protein at amino acid 463 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E463* is predicted to lead to a loss of Msh6 protein function.
R976H missense unknown MSH6 R976H lies within the clamp domain of the Msh6 protein (PMID: 18790734). R976H results in decreased Msh6 affinity for ADP and mismatched DNA in cell culture (PMID: 18790734), however, in another study demonstrated proficient mismatch repair activity (PMID: 22102614), and thus its effect on Msh6 protein is unknown.
Y397fs frameshift loss of function - predicted MSH6 Y397fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 397 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). Y397fs (reported as Y397fs*3) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
A297T missense unknown MSH6 A297T does not lie within any known functional domains of the Msh6 protein (UniProt.org). A297T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E956D missense unknown MSH6 E956D does not lie within any known functional domains of the Msh6 protein (UniProt.org). E956D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
D89E missense unknown MSH6 D89E does not lie within any known functional domains of the Msh6 protein (UniProt.org). D89E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
M452V missense unknown MSH6 M452V lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). M452V has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R128H missense unknown MSH6 R128H lies within the PWWP domain of the Msh6 protein (UniProt.org). R128H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
V480L missense unknown MSH6 V480L lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). V480L has been identified in the scientific literature (PMID: 12732731), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
D390N missense unknown MSH6 D390N lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D390N has been identified in sequencing studies (PMID: 10786688), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
R577H missense unknown MSH6 R577H lies within the MutS domain 2 of the Msh6 protein (PMID: 23621914). R577H is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
K692N missense unknown MSH6 K692N lies within the MutS domain 2 of the Msh6 protein (PMID: 23621914). K692N has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R1095H missense no effect MSH6 R1095H lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1095H demonstrates DNA mismatch repair activity, expression, and MSH2-interaction ability similar to wild-type Msh6 protein in cell culture (PMID: 24040339, PMID: 21120944, PMID: 12522549).
A1204E missense unknown MSH6 A1204E lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204E has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
T1219I missense loss of function MSH6 T1219I does not lie within any known functional domains of the Msh6 protein (UniProt.org). T1219I results in a loss of Msh6 protein function, as indicated by loss of mismatch induced conformational changes and defective DNA mismatch repair (PMID: 22277660)
V1350A missense unknown MSH6 V1350A lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). V1350A has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R961I missense unknown MSH6 R961I lies within the MutS domain 4 of the Msh6 protein (PMID: 23621914). R961I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R1331Q missense unknown MSH6 R1331Q lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). R1331Q has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
D422G missense unknown MSH6 D422G lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D422G has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
G1316R missense unknown MSH6 G1316R lies within an Msh2-binding site of the Msh6 protein (PMID: 12019211). G1316R has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
D358N missense unknown MSH6 D358N lies within an Msh2-binding site of the Msh6 protein (PMID: 12019211). D358N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
R361H missense unknown MSH6 R361H lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). R361H has been identified in the scientific literature (PMID: 26674132, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
K1013N missense unknown MSH6 K1013N does not lie within any known functional domains of the Msh6 protein (UniProt.org). K1013N has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
T1010A missense unknown MSH6 T1010A lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). T1010A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
amp none no effect MSH6 amplification indicates an increased number of copies of the MSH6 gene. However, the mechanism causing the increase is unspecified.
S950I missense unknown MSH6 S950I lies within the MutS domain 4 of the Msh6 protein (PMID: 23621914). S950I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G624S missense unknown MSH6 G624S lies within the connector domain of the Msh6 protein (PMID: 17531815). G624S has been identified in sequencing studies (PMID: 21097718), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
T757I missense unknown MSH6 T757I lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). T757I has been identified in sequencing studies (PMID: 25078279, PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
P1082L missense unknown MSH6 P1082L lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1082L has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E1234* nonsense unknown MSH6 E1234* results in a premature truncation of the Msh6 protein at amino acid 1234 of 1360 (UniProt.org). E1234* has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E224* nonsense loss of function - predicted MSH6 E224* results in a premature truncation of the Msh6 protein at amino acid 224 of 1360 (UniProt.org). Due to the loss of most known functional domains (PMID: 17531815), E224* is predicted to lead to a loss of Msh6 protein function.
T1189I missense unknown MSH6 T1189I lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). T1189I has been identified in sequencing studies (PMID: 23856246, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A457V insertion unknown MSH6 A457V lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A457V has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
S668C missense unknown MSH6 S668C lies within the MutS domain 2 of the Msh6 protein (PMID: 23621914). S668C has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
K417E missense unknown MSH6 K417E lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). K417E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
P1087R missense no effect MSH6 P1087R lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1087R demonstrates binding to Msh2 and in vitro mismatch repair activity similar to wild-type Msh6 (PMID: 12019211, PMID: 21120944).
G566R missense loss of function MSH6 G566R lies within the Msh2-binding region of the Msh6 protein (PMID: 12019211). G566R results in deficient ATP binding and decreased Msh6 ATPase activity in in vitro assays (PMID: 18790734).
W142* nonsense loss of function - predicted MSH6 W142* results in a premature truncation of the Msh6 protein at amino acid 1044 of 1360 (UniProt.org). W142* has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
M1156K missense unknown MSH6 M1156K lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). M1156K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
K1101N missense unknown MSH6 K1101N lies within the ATPase domain of the Msh6 protein (PMID: 17531815). K1101N is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R922Q missense unknown MSH6 R922Q lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R922Q was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A64V missense unknown MSH6 A64V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A64V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
S321* nonsense loss of function - predicted MSH6 S321* results in a premature truncation of the Msh6 protein at amino acid 321 of 1360 (UniProt.org). Due to the loss of most known functional domains (PMID: 23391514), S321* is predicted to lead to a loss of Msh6 protein function.
S1028L missense unknown MSH6 S1028L lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). S1028L has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G39E missense unknown MSH6 G39E does not lie within any known functional domains of the Msh6 protein (UniProt.org). G39E is a common Msh6 polymorphism (PMID: 17205513, PMID: 24622885), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
Q618* nonsense loss of function - predicted MSH6 Q618* results in a premature truncation of the Msh6 protein at amino acid 618 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), Q618* is predicted to lead to a loss of Msh6 protein function.
G1072C missense unknown MSH6 G1072C does not lie within any known functional domains of the Msh6 protein (UniProt.org). G1072C has been identified in sequencing studies, but has not been biochemically characterized in and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
R495* nonsense loss of function - predicted MSH6 R495* results in a premature truncation of the Msh6 protein at amino acid 495 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), R495* is predicted to lead to a loss of Msh6 protein function.
T1085fs frameshift loss of function - predicted MSH6 T1085fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1085 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). T1085fs has been identified in sequencing studies (PMID: 23417712), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E1254del deletion unknown MSH6 E1254del results in the deletion of one amino acid in the ATPase domain of the Msh6 protein at amino acid 1254 (PMID: 17531815). E1254del has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
D197H missense unknown MSH6 D197H does not lie within any known functional domains of the Msh6 protein (UniProt.org). D197H has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E1214* nonsense unknown MSH6 E1214* results in a premature truncation of the Msh6 protein at amino acid 1214 of 1360 (UniProt.org). E1214* has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
P1097S missense unknown MSH6 P1097S lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). P1097S has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R240* nonsense loss of function - predicted MSH6 R240* results in a premature truncation of the Msh6 protein at amino acid 240 of 1360 (UniProt.org). Due to the loss of most known functional domains (PMID: 23391514), R240* is predicted to lead to a loss of Msh6 protein function.
E641* nonsense loss of function - predicted MSH6 E641* results in a premature truncation of the Msh6 protein at amino acid 641 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E641* is predicted to lead to a loss of Msh6 protein function.
P1077S missense unknown MSH6 P1077S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1077S has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E908* nonsense loss of function - predicted MSH6 E908* results in a premature truncation of the Msh6 protein at amino acid 908 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E908* is predicted to lead to a loss of Msh6 protein function.
N960T missense unknown MSH6 N960T lies within the MutS domain 4 of the Msh6 protein (PMID: 23621914). N960T has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
I1109fs frameshift loss of function - predicted MSH6 I1109fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1109 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1109fs (reported as I1109fs*3) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
R1076C missense unknown MSH6 R1076C lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R1076C has been identified in the scientific literature (PMID: 22250089, PMID: 26832770), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
K185T missense unknown MSH6 K185T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K185T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
R761M missense unknown MSH6 R761M lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R761M has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
E1322* nonsense unknown MSH6 E1322* results in a premature truncation of the Msh6 protein at amino acid 1322 of 1360 (UniProt.org). E1322* has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
Y1044* nonsense loss of function - predicted MSH6 Y1044* results in a premature truncation of the Msh6 protein at amino acid 1044 of 1360 (UniProt.org). Due to the loss of the ATPase domain (PMID: 23391514), Y1044* is predicted to lead to a loss of Msh6 protein function.
R772W missense loss of function - predicted MSH6 R772W does not lie within any known functional domains of the Msh6 protein (UniProt.org). R772W has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
I1357N missense unknown MSH6 I1357N lies within an Msh2-binding site of the Msh6 protein (PMID: 12019211). I1357N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
I425T missense unknown MSH6 I425T lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). I425T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E946* nonsense loss of function - predicted MSH6 E946* results in a premature truncation of the Msh6 protein at amino acid 946 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), E946* is predicted to lead to a loss of Msh6 protein function.
L893Q missense unknown MSH6 L893Q lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). L893Q has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
F689L missense unknown MSH6 F689L does not lie within any known functional domains of the Msh6 protein (UniProt.org). F689L has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E544D missense unknown MSH6 E544D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). E544D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
K431T missense unknown MSH6 K431T lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). K431T has been identified in sequencing studies (PMID: 25233892), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
K1009I missense unknown MSH6 K1009I lies within the lever domain of the Msh6 protein (PMID: 17531815). K1009I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
M868T missense unknown MSH6 M868T lies within the lever domain of the Msh6 protein (PMID: 17531815). M868T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
S702* nonsense loss of function - predicted MSH6 S702* results in a premature truncation of the Msh6 protein at amino acid 1044 of 1360 (UniProt.org). S702* has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
Y397H missense unknown MSH6 Y397H lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). Y397H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
E286K missense unknown MSH6 E286K does not lie within any known functional domains of the Msh6 protein (UniProt.org). E286K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
P1082S missense unknown MSH6 P1082S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1082S has been identified in the scientific literature (PMID: 24100870), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
R791C missense unknown MSH6 R791C lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R791C has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
S1208F missense unknown MSH6 S1208F lies within the Magnesium-binding region of the Msh6 protein (PMID: 12019211). S1208F has been identified in sequencing studies (PMID: 24628946), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
S144I missense no effect MSH6 S144I lies within the PWWP domain of the Msh6 protein (UniProt.org). S144I binds Msh2 and DNA, and has DNA mismatch repair activity similar to wild-type Msh6 in culture (PMID: 12019211, PMID: 18484749, PMID: 21120944).
W1047* nonsense loss of function - predicted MSH6 W1047* results in a premature truncation of the Msh6 protein at amino acid 1047 of 1360 (UniProt.org). Due to the loss the ATPase domain (PMID: 23391514), W1047* is predicted to lead to a loss of Msh6 protein function.
R1024W missense unknown MSH6 R1024W lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R1024W is predicted to have a pathogenic effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
L423I missense unknown MSH6 L423I lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L423I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
F1088fs frameshift unknown MSH6 F1088fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1088 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). F1088fs has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
S1049F missense unknown MSH6 S1049F lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). S1049F is predicted to have a moderate effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G1299C missense unknown MSH6 G1299C lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1299C has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
R383G missense unknown MSH6 R383G lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). R383G has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E484K missense unknown MSH6 E484K lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). E484K has been identified in sequencing studies (PMID: 28912153), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2018).
loss unknown loss of function MSH6 loss indicates loss of the MSH6 gene, mRNA, and protein.
P233S missense unknown MSH6 P233S does not lie within any known functional domains of the Msh6 protein (UniProt.org). P233S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
K885N missense unknown MSH6 K885N lies within the lever domain of the Msh6 protein (PMID: 17531815). K885N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
A339D missense unknown MSH6 A339D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A339D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
G93E missense unknown MSH6 G93E lies within the PWWP domain of the Msh6 protein (UniProt.org). G93E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
E597Q missense unknown MSH6 E597Q does not lie within any known functional domains of the Msh6 protein (UniProt.org). E597Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
P591Q missense unknown MSH6 P591Q lies within the MutS domain 2 of the Msh6 protein (PMID: 23621914). P591Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
S360I missense unknown MSH6 S360I lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). S360I is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
W912R missense unknown MSH6 W912R lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). W912R has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A25S missense no effect MSH6 A25S does not lie within any known functional domains of the Msh6 protein (UniProt.org). A25S demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 22102614, and was not identified to interfere with Msh6 mismatch repair activity in a functional screen (PMID: 28531214).
K125* nonsense loss of function - predicted MSH6 K125* results in a premature truncation of the Msh6 protein at amino acid 125 of 1360 (UniProt.org). Due to the loss of most known functional domains (PMID: 17531815), K125* is predicted to lead to a loss of Msh6 protein function.
I1183T missense unknown MSH6 I1183T lies with the ATPase domain of the Msh6 protein (PMID: 17531815). I1183T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
W777* nonsense loss of function - predicted MSH6 W777* results in a premature truncation of the Msh6 protein at amino acid 777 of 1360 (UniProt.org). Due to the several known functional domains, including the ATPase domain (PMID: 23391514), W777* is predicted to lead to a loss of Msh6 protein function.
V1056M missense unknown MSH6 V1056M lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). V1056M is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
T1205I missense unknown MSH6 T1205I lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). T1205I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
G529C missense unknown MSH6 G529C lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). G529C has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
I1183K missense unknown MSH6 I1183K lies with the ATPase domain of the Msh6 protein (PMID: 17531815). I1183K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
I944V missense unknown MSH6 I944V lies within the clamp domain of the Msh6 protein (PMID: 17531815). I944V has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
K428T missense unknown MSH6 K428T lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). K428T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R644S missense unknown MSH6 R644S lies within the MutS domain 2 of the Msh6 protein (PMID: 23621914). R644S is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A1204P missense unknown MSH6 A1204P lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204P has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
K646R missense unknown MSH6 K646R lies within the connector domain of the Msh6 protein (PMID: 17531815). K646R has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
R1076H missense unknown MSH6 R1076H lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). R1076H has been identified in sequencing studies (PMID: 29263802), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
T1238A missense unknown MSH6 T1238A lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). T1238A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
E1196* nonsense unknown MSH6 E1196* results in a premature truncation of the Msh6 protein at amino acid 1196 of 1360 (UniProt.org). E1196* has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
S1279N missense unknown MSH6 S1279N lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). S1279N has been identified in sequencing studies (PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
A457D missense unknown MSH6 A457D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A457D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2018).
V509A missense unknown MSH6 V509A lies within the MutS domain 1 of the Msh6 protein (PMID: 23621914). V509A does not lead to interference with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Dec 2018).
S503C missense no effect - predicted MSH6 S503C does not lie within any known functional domains of the Msh6 protein (UniProt.org). S503C demonstrates mismatch repair activity similar to wild-type Msh6 in a cell-free assay (PMID: 22102614), and is therefore predicted to have no effect on Msh6 protein function.
A175T missense unknown MSH6 A175T does not lie within any known functional domains of the Msh6 protein (UniProt.org). A175T has been identified in sequencing studies (PMID: 27302833), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
V450A missense unknown MSH6 V450A lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). V450A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
R922* nonsense loss of function - predicted MSH6 R922* results in a premature truncation of the Msh6 protein at amino acid 922 of 1360 (UniProt.org). Due to the loss of several known functional domains, including the ATPase domain (PMID: 23391514), R922* is predicted to lead to a loss of Msh6 protein function.
K99N missense unknown MSH6 K99N lies within the PWWP domain of the Msh6 protein (UniProt.org). K99N is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018)
D358E missense unknown MSH6 D358E lies within an Msh2-binding site of the Msh6 protein (PMID: 12019211). D358E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
Q698E missense unknown MSH6 Q698E lies within the connector domain of the Msh6 protein (PMID: 17531815). Q698E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
E993K missense unknown MSH6 E993K lies within the clamp domain of the Msh6 protein (PMID: 17531815). E993K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
K155R missense unknown MSH6 K155R does not lie within any known functional domains of the Msh6 protein (UniProt.org). K155R has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
S314I missense unknown MSH6 S314I does not lie within any known functional domains of the Msh6 protein (UniProt.org). S314I is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
L681F missense unknown MSH6 L681F within the connector domain of the Msh6 protein (PMID: 17531815). L681F has been identified in sequencing studies (PMID: 22980975, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
H1248D missense loss of function MSH6 H1248D lies within the ATPase domain of the Msh6 protein (PMID: 18790734). H1248D results in decreased Msh6 ATPase activity and reduced affinity for mismatch DNA in in vitro assays (PMID: 18790734).
R1334W missense unknown MSH6 R1334W lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). R1334W has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
R482Q missense unknown MSH6 R482Q lies within the MSH2-binding region of the Msh6 protein (PMID: 12019211). R482Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
M868I missense unknown MSH6 M868I lies within the lever domain of the Msh6 protein (PMID: 17531815). M868I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2018).
F689V missense unknown MSH6 F689V does not lie within any known functional domains of the Msh6 protein (UniProt.org). F689V has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2018).
D1171fs frameshift loss of function - predicted MSH6 D1171fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1171 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). D1171fs (reported as D1171fs*5) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to result in a loss of Msh6 protein function.
L290* nonsense loss of function - predicted MSH6 L290* results in a premature truncation of the Msh6 protein at amino acid 290 of 1360 (UniProt.org). Due to the loss of most known functional domains (PMID: 23391514), L290* is predicted to lead to a loss of Msh6 protein function.
T1247S missense unknown MSH6 T1247S lies within the MutS domain 5 of the Msh6 protein (PMID: 23621914). T1247S has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
L979V missense unknown MSH6 L979V lies within the MutS domain 4 of the Msh6 protein (PMID: 23621914). L979V has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2018).
Molecular Profile Protein Effect Treatment Approaches
MSH6 V878A unknown
MSH6 A322V unknown
MSH6 F573fs loss of function - predicted
MSH6 R1034Q unknown
MSH6 D803G loss of function - predicted
MSH6 D667V unknown
MSH6 G39W unknown
MSH6 I516Sfs*55 loss of function - predicted
MSH6 E604* loss of function - predicted
MSH6 T269S unknown
MSH6 G141D unknown
MSH6 N897H unknown
MSH6 P768H unknown
MSH6 R178H unknown
MSH6 R791H unknown
MSH6 L373P unknown
MSH6 D530Y unknown
MSH6 I258T unknown
MSH6 C615F unknown
MSH6 T750P unknown
MSH6 K1358Dfs*2 unknown
MSH6 S285I no effect - predicted
MSH6 C88W unknown
MSH6 I872fs loss of function - predicted
MSH6 S1067I unknown
MSH6 P781T unknown
MSH6 E619* loss of function - predicted
MSH6 K1358fs unknown
MSH6 mutant unknown
MSH6 E544fs loss of function - predicted
MSH6 P1087T no effect
MSH6 R1331* unknown
MSH6 S677I unknown
MSH6 R959H unknown
MSH6 G1299D unknown
MSH6 F1088Lfs*5 unknown
MSH6 E463* loss of function - predicted
MSH6 R976H unknown
MSH6 Y397fs loss of function - predicted
MSH6 A297T unknown
MSH6 E956D unknown
MSH6 D89E unknown
MSH6 M452V unknown
MSH6 R128H unknown
MSH6 V480L unknown
MSH6 D390N unknown
MSH6 R577H unknown
MSH6 K692N unknown
MSH6 R1095H no effect
MSH6 A1204E unknown
MSH6 T1219I loss of function
MSH6 V1350A unknown
MSH6 R961I unknown
MSH6 R1331Q unknown
MSH6 D422G unknown
MSH6 G1316R unknown
MSH6 D358N unknown
MSH6 R361H unknown
MSH6 K1013N unknown
MSH6 T1010A unknown
MSH6 amp no effect
MSH6 S950I unknown
MSH6 G624S unknown
MSH6 T757I unknown
MSH6 P1082L unknown
MSH6 E1234* unknown
MSH6 E224* loss of function - predicted
MSH6 T1189I unknown
MSH6 A457V unknown
MSH6 S668C unknown
MSH6 K417E unknown
MSH6 P1087R no effect
MSH6 G566R loss of function
MSH6 W142* loss of function - predicted
MSH6 M1156K unknown
MSH6 K1101N unknown
MSH6 R922Q unknown
MSH6 A64V unknown
MSH6 S321* loss of function - predicted
MSH6 S1028L unknown
MSH6 G39E unknown
MSH6 Q618* loss of function - predicted
MSH6 G1072C unknown
MSH6 R495* loss of function - predicted
MSH6 T1085fs loss of function - predicted
MSH6 E1254del unknown
MSH6 D197H unknown
MSH6 E1214* unknown
MSH6 P1097S unknown
MSH6 R240* loss of function - predicted
MSH6 E641* loss of function - predicted
MSH6 P1077S unknown
MSH6 E908* loss of function - predicted
MSH6 N960T unknown
MSH6 I1109fs loss of function - predicted
MSH6 R1076C unknown
MSH6 K185T unknown
MSH6 R761M unknown
MSH6 E1322* unknown
MSH6 Y1044* loss of function - predicted
MSH6 R772W loss of function - predicted
MSH6 I1357N unknown
MSH6 I425T unknown
MSH6 E946* loss of function - predicted
MSH6 L893Q unknown
MSH6 F689L unknown
MSH6 E544D unknown
MSH6 K431T unknown
MSH6 K1009I unknown
MSH6 M868T unknown
MSH6 S702* loss of function - predicted
MSH6 Y397H unknown
MSH6 E286K unknown
MSH6 P1082S unknown
MSH6 R791C unknown
MSH6 S1208F unknown
MSH6 S144I no effect
MSH6 W1047* loss of function - predicted
MSH6 R1024W unknown
MSH6 L423I unknown
MSH6 F1088fs unknown
MSH6 S1049F unknown
MSH6 G1299C unknown
MSH6 R383G unknown
MSH6 E484K unknown
MSH6 loss loss of function
MSH6 P233S unknown
MSH6 K885N unknown
MSH6 A339D unknown
MSH6 G93E unknown
MSH6 E597Q unknown
MSH6 P591Q unknown
MSH6 S360I unknown
MSH6 W912R unknown
MSH6 A25S no effect
MSH6 K125* loss of function - predicted
MSH6 I1183T unknown
MSH6 W777* loss of function - predicted
MSH6 V1056M unknown
MSH6 T1205I unknown
MSH6 G529C unknown
MSH6 I1183K unknown
MSH6 I944V unknown
MSH6 K428T unknown
MSH6 R644S unknown
MSH6 A1204P unknown
MSH6 K646R unknown
MSH6 R1076H unknown
MSH6 T1238A unknown
MSH6 E1196* unknown
MSH6 S1279N unknown
MSH6 A457D unknown
MSH6 V509A unknown
MSH6 S503C no effect - predicted
MSH6 A175T unknown
MSH6 V450A unknown
MSH6 R922* loss of function - predicted
MSH6 K99N unknown
MSH6 D358E unknown
MSH6 Q698E unknown
MSH6 E993K unknown
MSH6 K155R unknown
MSH6 S314I unknown
MSH6 L681F unknown
MSH6 H1248D loss of function
MSH6 R1334W unknown
MSH6 R482Q unknown
MSH6 M868I unknown
MSH6 F689V unknown
MSH6 D1171fs loss of function - predicted
MSH6 L290* loss of function - predicted
MSH6 T1247S unknown
MSH6 L979V unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH6 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant colorectal cancer not applicable N/A Clinical Study Diagnostic Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). 26582061 19125127
MSH6 mutant endometrial cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial cancer (NCCN.org). detail...
MSH6 T1219I glioblastoma multiforme resistant Temozolomide Preclinical Actionable In a preclinical study, glioblastoma cells harboring a MSH6 T1219I mutation were resistant to Temodar (temozolomide) in cell culture (PMID: 19584161). 19584161
MSH6 loss colon cancer no benefit KU60648 Preclinical - Cell culture Actionable In a preclinical study, MSH6 deficient colon cancer cells did not respond to treatment with KU60648 in culture (PMID: 28224663). 28224663
MSH6 loss colon carcinoma not applicable N/A Preclinical Emerging Preclinical shRNA mediated-inhibition of PTEN-induced putative kinase 1 (PINK1) in colon carcinoma cells with MSH6 loss resulted in synthetic lethality, suggesting PINK1 may be a promising therapeutic target for MSH6 deficient cancer cells (PMID: 21242281). 21242281