Gene Detail

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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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Molecular Profile Protein Effect Treatment Approaches
SMC3 A1148V unknown
SMC3 A163G unknown
SMC3 A878S unknown
SMC3 D1208N unknown
SMC3 D21H unknown
SMC3 D21V unknown
SMC3 D265Y unknown
SMC3 D712G unknown
SMC3 D92N unknown
SMC3 E1204D unknown
SMC3 E161K unknown
SMC3 E204D unknown
SMC3 E289Q unknown
SMC3 E315G unknown
SMC3 E343V unknown
SMC3 E468* loss of function - predicted
SMC3 E476K unknown
SMC3 E52Q unknown
SMC3 E834* unknown
SMC3 E896K unknown
SMC3 E975K unknown
SMC3 G1064D unknown
SMC3 G662C unknown
SMC3 G782* unknown
SMC3 G823A unknown
SMC3 H55Y unknown
SMC3 H660Y unknown
SMC3 H917Y unknown
SMC3 I1001V unknown
SMC3 I176L unknown
SMC3 I45V unknown
SMC3 I824F unknown
SMC3 inact mut loss of function
SMC3 K180N unknown
SMC3 K418E unknown
SMC3 L124R unknown
SMC3 L203V unknown
SMC3 L210P loss of function - predicted
SMC3 L375I unknown
SMC3 L402del unknown
SMC3 L420V unknown
SMC3 L497I unknown
SMC3 L821I unknown
SMC3 M1109I unknown
SMC3 M609V unknown
SMC3 M648V unknown
SMC3 M901V unknown
SMC3 M925I unknown
SMC3 mutant unknown
SMC3 Q154H unknown
SMC3 Q230E unknown
SMC3 Q761H unknown
SMC3 Q809* unknown
SMC3 Q989* unknown
SMC3 R132Q unknown
SMC3 R15I unknown
SMC3 R254* loss of function - predicted
SMC3 R381Q unknown
SMC3 R57H unknown
SMC3 R661P unknown
SMC3 R661W unknown
SMC3 R72C unknown
SMC3 R796I unknown
SMC3 R818I unknown
SMC3 R827* unknown
SMC3 R879Q unknown
SMC3 R903C unknown
SMC3 R928Q unknown
SMC3 R944* unknown
SMC3 R967* unknown
SMC3 R967Q unknown
SMC3 R99* loss of function - predicted
SMC3 S131Y unknown
SMC3 S282* loss of function - predicted
SMC3 S731C unknown
SMC3 S948L unknown
SMC3 S97L unknown
SMC3 T1174I unknown
SMC3 T548A unknown
SMC3 T570M unknown
SMC3 T586A unknown
SMC3 T876P unknown
SMC3 V682A unknown
SMC3 V682I unknown
SMC3 W394C unknown
SMC3 Y43H unknown
SMC3 Y43Mfs*69 loss of function - predicted
SMC3 Y668Lfs*3 unknown
SMC3 Y669D unknown
SMC3 Y979C unknown