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Gene Symbol | ARID1B | ||||||||||
Synonyms | 6A3-5 | BAF250B | BRIGHT | CSS1 | DAN15 | ELD/OSA1 | MRD12 | OSA2 | P250R | SMARCF2 | ||||||||||
Gene Description | ARID1B, AT-rich interactive domain-containing protein 1B, is a member of the cBaF subunit (PMID: 32303701) of the SWI/SNF chromatin remodeling complex and is involved in cell-cycle activation (PMID: 15170388) and plays a role in neurodevelopment (PMID: 25674384). ARID1B mutations have been identified in several tumor types including, melanoma, gastric, colorectal, liver, neuroblastoma (PMID: 28521285), and pancreatic (PMID: 27737960) and decreased expression has been observed in ovarian clear cell carcinoma (PMID: 29890703). | ||||||||||
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Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1B dec exp | no effect | |
ARID1B E1746A | unknown | |
ARID1B G169R | unknown | |
ARID1B G169R TSC2 P1497H | ||
ARID1B G1811Vfs*27 | unknown | |
ARID1B inact mut | loss of function | |
ARID1B mutant | unknown | |
ARID1B P417Rfs*13 | loss of function - predicted | |
ARID1B P450dup | unknown | |
ARID1B P719L | unknown | |
ARID1B Q123* | loss of function - predicted | |
ARID1B Q127_Q131del | unknown | |
ARID1B Q127_Q131del IDH1 R132L | ||
ARID1B R1062* | loss of function - predicted | |
ARID1B R1075* | loss of function | |
ARID1B wild-type | no effect |