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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
57492 6 6q25.3 NM_017519 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
dec exp none no effect ARID1B dec exp indicates decreased expression of the Arid1b protein. However, the mechanism causing the decreased expression is unspecified.
E1746A missense unknown ARID1B E1746A (corresponding to E1733B in the canonical isoform) does not lie within any known functional domains of the Arid1b protein (UniProt.org). E1746A has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024).
G169R missense unknown ARID1B G169R does not lie within any known functional domains of the Arid1b protein (UniProt.org). G169R has been identified in the scientific literature (PMID: 35965503), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024).
G1811Vfs*27 frameshift unknown ARID1B G1811Vfs*27 indicates a shift in the reading frame starting at amino acid 1811 and terminating 27 residues downstream causing a premature truncation of the 2236 amino acid Arid1b protein (UniProt.org). G1811Vfs*27 has not been characterized in the scientific literature and therefore, its effect on Arid1b protein function is unknown (PubMed, Jul 2024).
inact mut unknown loss of function ARID1B inact mut indicates that this variant results in a loss of function of the Arid1b protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ARID1B mutant indicates an unspecified mutation in the ARID1B gene.
P417Rfs*13 frameshift loss of function - predicted ARID1B P417Rfs*13 indicates a shift in the reading frame starting at amino acid 417 and terminating 13 residues downstream causing a premature truncation of the 2236 amino acid Arid1b protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P417Rfs*13 is predicted to lead to a loss of Arid1b protein function.
P450dup duplication unknown ARID1B P450dup indicates the insertion of the duplicate amino acid, proline (P)-450, in the Arid1b protein (UniProt.org). P450dup has been identified in sequencing studies (PMID: 22610119, PMID: 28713588), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024).
P719L missense unknown ARID1B P719L does not lie within any known functional domains of the Arid1b protein (UniProt.org). P719L has not been characterized in the scientific literature and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024).
Q123* nonsense loss of function - predicted ARID1B Q123* results in a premature truncation of the Arid1b protein at amino acid 123 of 2236 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q123* is predicted to lead to a loss of Arid1b protein function.
Q127_Q131del deletion unknown ARID1B Q127_Q131del results in the deletion of five amino acids in the Arid1b protein from amino acids 127 to 131 (UniProt.org). Q127_Q131del has been identified in the scientific literature (PMID: 36374558), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Apr 2024).
R1062* nonsense loss of function - predicted ARID1B R1062* results in a premature truncation of the Arid1b protein at amino acid 1062 of 2236 (UniProt.org). R1062* is predicted to confer a loss of function on Arid1b, as the corresponding variant in an alternate isoform (R1075*) results in decreased protein stability, reduced association with chromatin, and impaired cranial neural crest cell formation likely due to aberrant NANOG/SOX2 activity in patient derived cells (PMID: 34753942).
R1075* nonsense loss of function ARID1B R1075* (corresponds to R1062* in the canonical isoform) results in a premature truncation of the Arid1b protein at amino acid 1075 of 2236 (UniProt.org). R1075* results in decreased protein stability, reduced association with chromatin, and impaired cranial neural crest cell formation likely due to aberrant NANOG/SOX2 activity in patient-derived cells (PMID: 34753942).
wild-type none no effect Wild-type ARID1B indicates that no mutation has been detected within the ARID1B gene.