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Gene Symbol SMC3
Synonyms BAM | BMH | CDLS3 | CSPG6 | HCAP | SMC3L1
Gene Description SMC3, structural maintenance of chromosomes 3, is a component of the cohesin complex, which functions in cohesion of sister chromatids during mitosis (PMID: 24856830, PMID: 23776448, PMID: 29187575). SMC3 mutations have been identified in chronic myeloid neoplasms (PMID: 30138727) as well as several additional hematological and solid tumor types (PMID: 24335498, PMID: 24856830, PMID: 23955599).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1148V missense unknown SMC3 A1148V lies within the DA-box region of the Smc3 protein (UniProt.org). A1148V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
A163G missense unknown SMC3 A163G does not lie within any known functional domains of the Smc3 protein (UniProt.org). A163G has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
A878S missense unknown SMC3 A878S lies within the coiled-coil domain of the Smc3 protein (UniProt.org). A878S has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D1208N missense unknown SMC3 D1208N does not lie within any known functional domains of the Smc3 protein (UniProt.org). D1208N has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D21H missense unknown SMC3 D21H does not lie within any known functional domains of the Smc3 protein (UniProt.org). D21H has not been characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D21V missense unknown SMC3 D21V does not lie within any known functional domains of the Smc3 protein (UniProt.org). D21V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D265Y missense unknown SMC3 D265Y lies within the coiled-coil domain of the Smc3 protein (UniProt.org). D265Y has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D712G missense unknown SMC3 D712G lies within the coiled-coil domain of the Smc3 protein (UniProt.org). D712G has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
D92N missense unknown SMC3 D92N does not lie within any known functional domains of the Smc3 protein (UniProt.org). D92N has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E1204D missense unknown SMC3 E1204D does not lie within any known functional domains of the Smc3 protein (UniProt.org). E1204D has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E161K missense unknown SMC3 E161K does not lie within any known functional domains of the Smc3 protein (UniProt.org). E161K has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E204D missense unknown SMC3 E204D lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E204D has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E289Q missense unknown SMC3 E289Q lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E289Q has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E315G missense unknown SMC3 E315G lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E315G has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E343V missense unknown SMC3 E343V lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E343V has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E468* nonsense loss of function - predicted SMC3 E468* results in a premature truncation of the Smc3 protein at amino acid 468 of 1217 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E468* is predicted to lead to a loss of Smc3 protein function.
E476K missense unknown SMC3 E476K lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E476K has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E52Q missense unknown SMC3 E52Q does not lie within any known functional domains of the Smc3 protein (UniProt.org). E52Q has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E834* nonsense unknown SMC3 E834* results in a premature truncation of the Smc3 protein at amino acid 834 of 1217 (UniProt.org). E834* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E896K missense unknown SMC3 E896K lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E896K has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
E975K missense unknown SMC3 E975K lies within the coiled-coil domain of the Smc3 protein (UniProt.org). E975K has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
G1064D missense unknown SMC3 G1064D does not lie within any known functional domains of the Smc3 protein (UniProt.org). G1064D has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
G662C missense unknown SMC3 G662C does not lie within any known functional domains of the Smc3 protein (UniProt.org). G662C results in significant decrease in erythroid differentiation as determined by surface expression of glycophorin A and RNA expression of fetal hemoglobin and KLF-1 in cultured cell lines (PMID: 26607380), but has not been fully biochemically characterized and therefore, its effect on Smc3 protein function is unknown.
G782* nonsense unknown SMC3 G782* results in a premature truncation of the Smc3 protein at amino acid 782 of 1217 (UniProt.org). G782* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
G823A missense unknown SMC3 G823A lies within the coiled-coil domain of the Smc3 protein (UniProt.org). G823A has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
H55Y missense unknown SMC3 H55Y does not lie within any known functional domains of the Smc3 protein (UniProt.org). H55Y has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
H660Y missense unknown SMC3 H660Y does not lie within any known functional domains of the Smc3 protein (UniProt.org). H660Y has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
H917Y missense unknown SMC3 H917Y lies within the coiled-coil domain of the Smc3 protein (UniProt.org). H917Y has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
I1001V missense unknown SMC3 I1001V does not lie within any known functional domains of the Smc3 protein (UniProt.org). I1001V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
I176L missense unknown SMC3 I176L does not lie within any known functional domains of the Smc3 protein (UniProt.org). I176L has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
I45V missense unknown SMC3 I45V does not lie within any known functional domains of the Smc3 protein (UniProt.org). I45V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
I824F missense unknown SMC3 I824F lies within the coiled-coil domain of the Smc3 protein (UniProt.org). I824F has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function SMC3 inact mut indicates that this variant results in a loss of function of the Smc3 protein. However, the specific amino acid change has not been identified.
K180N missense unknown SMC3 K180N lies within the coiled-coil domain of the Smc3 protein (UniProt.org). K180N has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
K418E missense unknown SMC3 K418E lies within the coiled-coil domain of the Smc3 protein (UniProt.org). K418E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L124R missense unknown SMC3 L124R does not lie within any known functional domains of the Smc3 protein (UniProt.org). L124R has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L203V missense unknown SMC3 L203V lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L203V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L210P missense loss of function - predicted SMC3 L210P lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L210P likely confers confers loss of function to the Smc3 protein as demonstrated in yeast, by loss of ability to support cell growth and sister chromatid cohesion, inhibition of cohesin loading onto chromosomes, and altered conformation of the Smc3 protein (PMID: 27307603).
L375I missense unknown SMC3 L375I does not lie within any known functional domains of the Smc3 protein (UniProt.org). L375I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L402del deletion unknown SMC3 L402del results in the deletion of one amino acid in the coiled-coil domain of the Smc3 protein at amino acid 402 (UniProt.org). L402del has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L420V missense unknown SMC3 L420V lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L420V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L497I missense unknown SMC3 L497I lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L497I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
L821I missense unknown SMC3 L821I lies within the coiled-coil domain of the Smc3 protein (UniProt.org). L821I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
M1109I missense unknown SMC3 M1109I does not lie within any known functional domains of the Smc3 protein (UniProt.org). M1109I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
M609V missense unknown SMC3 M609V lies within the SMC hinge region of the Smc3 protein (UniProt.org). M609V has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
M648V missense unknown SMC3 M648V does not lie within any known functional domains of the Smc3 protein (UniProt.org). M648V has been identified in sequencing studies (PMID: 21798893), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
M901V missense unknown SMC3 M901V lies within the coiled-coil domain of the Smc3 protein (UniProt.org). M901V as not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
M925I missense unknown SMC3 M925I does not lie within any known functional domains of the Smc3 protein (UniProt.org). M925I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
mutant unknown unknown SMC3 mutant indicates an unspecified mutation in the SMC3 gene.
Q154H missense unknown SMC3 Q154H does not lie within any known functional domains of the Smc3 protein (UniProt.org). Q154H has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Q230E missense unknown SMC3 Q230E lies within the coiled-coil domain of the Smc3 protein (UniProt.org). Q230E has not been characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Q761H missense unknown SMC3 Q761H lies within the coiled-coil domain of the Smc3 protein (UniProt.org). Q761H has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Q809* nonsense unknown SMC3 Q809* results in a premature truncation of the Smc3 protein at amino acid 809 of 1217 (UniProt.org). Q809* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Q989* nonsense unknown SMC3 Q989* results in a premature truncation of the Smc3 protein at amino acid 989 of 1217 (UniProt.org). Q989* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R132Q missense unknown SMC3 R132Q does not lie within any known functional domains of the Smc3 protein (UniProt.org). R132Q has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R15I missense unknown SMC3 R15I does not lie within any known functional domains of the Smc3 protein (UniProt.org). R15I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R254* nonsense loss of function - predicted SMC3 R254* results in a premature truncation of the Smc3 protein at amino acid 254 of 1217 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R254* is predicted to lead to a loss of Smc3 protein function.
R381Q missense unknown SMC3 R381Q does not lie within any known functional domains of the Smc3 protein (UniProt.org). R381Q has been identified in sequencing studies (PMID: 24335498, PMID: 27288520, PMID: 31303423), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R57H missense unknown SMC3 R57H does not lie within any known functional domains of the Smc3 protein (UniProt.org). R57H has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R661P missense unknown SMC3 R661P does not lie within any known functional domains of the Smc3 protein (UniProt.org). R661P has been identified in sequencing studies (PMID: 27470916), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R661W missense unknown SMC3 R661W does not lie within any known functional domains of the Smc3 protein (UniProt.org). R661W has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R72C missense unknown SMC3 R72C does not lie within any known functional domains of the Smc3 protein (UniProt.org). R72C has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R796I missense unknown SMC3 R796I lies within the coiled-coil domain of the Smc3 protein (UniProt.org). R796I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R818I missense unknown SMC3 R818I lies within the coiled-coil domain of the Smc3 protein (UniProt.org). R818I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R827* nonsense unknown SMC3 R827* results in a premature truncation of the Smc3 protein at amino acid 827 of 1217 (UniProt.org). R827* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R879Q missense unknown SMC3 R879Q lies within the coiled-coil domain of the Smc3 protein (UniProt.org). R879Q has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R903C missense unknown SMC3 R903C lies within the coiled-coil domain of the Smc3 protein (UniProt.org). R903C has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R928Q missense unknown SMC3 R928Q does not lie within any known functional domains of the Smc3 protein (UniProt.org). R928Q has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R944* nonsense unknown SMC3 R944* results in a premature truncation of the Smc3 protein at amino acid 944 of 1217 (UniProt.org). R944* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R967* nonsense unknown SMC3 R967* results in a premature truncation of the Smc3 protein at amino acid 967 of 1217 (UniProt.org). R967* has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R967Q missense unknown SMC3 R967Q lies within the coiled-coil domain of the Smc3 protein (UniProt.org). R967Q has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
R99* nonsense loss of function - predicted SMC3 R99* results in a premature truncation of the Smc3 protein at amino acid 99 of 1217 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R99* is predicted to lead to a loss of Smc3 protein function.
S131Y missense unknown SMC3 S131Y does not lie within any known functional domains of the Smc3 protein (UniProt.org). S131Y has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
S282* nonsense loss of function - predicted SMC3 S282* results in a premature truncation of the Smc3 protein at amino acid 282 of 1217 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S282* is predicted to lead to a loss of Smc3 protein function.
S731C missense unknown SMC3 S731C lies within the coiled-coil domain of the Smc3 protein (UniProt.org). S731C has not been characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
S948L missense unknown SMC3 S948L does not lie within any known functional domains of the Smc3 protein (UniProt.org). S948L has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
S97L missense unknown SMC3 S97L does not lie within any known functional domains of the Smc3 protein (UniProt.org). S97L has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
T1174I missense unknown SMC3 T1174I does not lie within any known functional domains of the Smc3 protein (UniProt.org). T1174I has been identified in sequencing studies (PMID: 24613412), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
T548A missense unknown SMC3 T548A lies within the flexible hinge region of the Smc3 protein (UniProt.org). T548A has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
T570M missense unknown SMC3 T570M lies within the SMC hinge region of the Smc3 protein (UniProt.org). T570M has not been characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
T586A missense unknown SMC3 T586A lies within the SMC hinge region of the Smc3 protein (UniProt.org). T586A has been identified in sequencing studies (PMID: 23917401, PMID: 23797736), but has not been biochemically characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
T876P missense unknown SMC3 T876P lies within the coiled-coil domain of the Smc3 protein (UniProt.org). T876P has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
V682A missense unknown SMC3 V682A lies within the coiled-coil domain of the Smc3 protein (UniProt.org). V682A has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
V682I missense unknown SMC3 V682I lies within the coiled-coil domain of the Smc3 protein (UniProt.org). V682I has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
W394C missense unknown SMC3 W394C lies within the coiled-coil domain of the Smc3 protein (UniProt.org). W394C has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Y43H missense unknown SMC3 Y43H does not lie within any known functional domains of the Smc3 protein (UniProt.org). Y43H has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Y43Mfs*69 frameshift loss of function - predicted SMC3 Y43Mfs*69 indicates a shift in the reading frame starting at amino acid 43 and terminating 69 residues downstream causing a premature truncation of the 1217 amino acid Smc3 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y43Mfs*69 is predicted to lead to a loss of Smc3 protein function.
Y668Lfs*3 frameshift unknown SMC3 Y668Lfs*3 indicates a shift in the reading frame starting at amino acid 668 and terminating 3 residues downstream causing a premature truncation of the 1217 amino acid Smc3 protein (UniProt.org). Y668Lfs*3 has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Y669D missense unknown SMC3 Y669D lies within the coiled-coil domain of the Smc3 protein (UniProt.org). Y669D has not been characterized and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).
Y979C missense unknown SMC3 Y979C lies within the coiled-coil domain of the Smc3 protein (UniProt.org). Y979C has not been characterized in the scientific literature and therefore, its effect on Smc3 protein function is unknown (PubMed, Mar 2020).