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Ref Type Journal Article
PMID (29736026)
Authors Shen J, Ju Z, Zhao W, Wang L, Peng Y, Ge Z, Nagel ZD, Zou J, Wang C, Kapoor P, Ma X, Ma D, Liang J, Song S, Liu J, Samson LD, Ajani JA, Li GM, Liang H, Shen X, Mills GB, Peng G
Title ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade.
Journal Nature medicine
Vol
Issue
Date 2018 May 07
URL
Abstract Text ARID1A (the AT-rich interaction domain 1A, also known as BAF250a) is one of the most commonly mutated genes in cancer1,2. The majority of ARID1A mutations are inactivating mutations and lead to loss of ARID1A expression 3 , which makes ARID1A a poor therapeutic target. Therefore, it is of clinical importance to identify molecular consequences of ARID1A deficiency that create therapeutic vulnerabilities in ARID1A-mutant tumors. In a proteomic screen, we found that ARID1A interacts with mismatch repair (MMR) protein MSH2. ARID1A recruited MSH2 to chromatin during DNA replication and promoted MMR. Conversely, ARID1A inactivation compromised MMR and increased mutagenesis. ARID1A deficiency correlated with microsatellite instability genomic signature and a predominant C>T mutation pattern and increased mutation load across multiple human cancer types. Tumors formed by an ARID1A-deficient ovarian cancer cell line in syngeneic mice displayed increased mutation load, elevated numbers of tumor-infiltrating lymphocytes, and PD-L1 expression. Notably, treatment with anti-PD-L1 antibody reduced tumor burden and prolonged survival of mice bearing ARID1A-deficient but not ARID1A-wild-type ovarian tumors. Together, these results suggest ARID1A deficiency contributes to impaired MMR and mutator phenotype in cancer, and may cooperate with immune checkpoint blockade therapy.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
ARID1A A1522Pfs*5 frameshift loss of function - predicted ARID1A A1522Pfs*5 indicates a shift in the reading frame starting at amino acid 1522 and terminating 5 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A1522Pfs*5 has not been characterized, however, due to the effects of other truncation mutations downstream of A1522 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A A1559* nonsense loss of function - predicted ARID1A A1559* results in a premature truncation of the Arid1a protein at amino acid 1559 of 2285 (UniProt.org). A1559* has not been characterized, however, due to the effects of other truncation mutations downstream of A1559 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A A1978Sfs*36 frameshift loss of function - predicted ARID1A A1978Sfs*36 indicates a shift in the reading frame starting at amino acid 1978 and terminating 36 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A1978Sfs*36 has not been characterized, however, due to the effects of other truncation mutations downstream of A1978 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A A339Gfs*61 frameshift loss of function - predicted ARID1A A339Gfs*61 indicates a shift in the reading frame starting at amino acid 339 and terminating 61 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A339Gfs*61 has not been characterized, however, due to the effects of other truncation mutations downstream of A339 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A A339Lfs*24 frameshift loss of function - predicted ARID1A A339Lfs*24 indicates a shift in the reading frame starting at amino acid 339 and terminating 24 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A339Lfs*24 has not been characterized, however, due to the effects of other truncation mutations downstream of A339 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A D1838* nonsense loss of function - predicted ARID1A D1838* results in a premature truncation of the Arid1a protein at amino acid 1838 of 2285 (UniProt.org). D1838* has not been characterized, however, due to the effects of other truncation mutations downstream of D1838 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A D1850fs frameshift loss of function - predicted ARID1A D1850fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1850 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). D1850fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1850 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A D1850Gfs*4 frameshift loss of function - predicted ARID1A D1850Gfs*4 indicates a shift in the reading frame starting at amino acid 1850 and terminating 4 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). D1850Gfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of D1850 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1596* nonsense loss of function - predicted ARID1A E1596* results in a premature truncation of the Arid1a protein at amino acid 1596 of 2285 (UniProt.org). E1596* has not been characterized, however, due to the effects of other truncation mutations downstream of E1596 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1718* nonsense loss of function - predicted ARID1A E1718* results in a premature truncation of the Arid1a protein at amino acid 1718 of 2285 (UniProt.org). E1718* has not been characterized, however, due to the effects of other truncation mutations downstream of E1718 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1733* nonsense loss of function - predicted ARID1A E1733* results in a premature truncation of the Arid1a protein at amino acid 1733 of 2285 (UniProt.org). E1733* has not been characterized, however, due to the effects of other truncation mutations downstream of E1733 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1764* nonsense loss of function - predicted ARID1A E1764* results in a premature truncation of the Arid1a protein at amino acid 1764 of 2285 (UniProt.org). E1764* has not been characterized, however, due to the effects of other truncation mutations downstream of E1764 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1776* nonsense loss of function - predicted ARID1A E1776* results in a premature truncation of the Arid1a protein at amino acid 1776 of 2285 (UniProt.org). E1776* has not been characterized, however, due to the effects of other truncation mutations downstream of E1776 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1780* nonsense loss of function - predicted ARID1A E1780* results in a premature truncation of the Arid1a protein at amino acid 1780 of 2285 (UniProt.org). E1780* has not been characterized, however, due to the effects of other truncation mutations downstream of E1780 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E1836* nonsense loss of function - predicted ARID1A E1836* results in a premature truncation of the Arid1a protein at amino acid 1836 of 2285 (UniProt.org). E1836* has not been characterized, however, due to the effects of other truncation mutations downstream of E1836 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E654Gfs*9 frameshift loss of function - predicted ARID1A E654Gfs*9 indicates a shift in the reading frame starting at amino acid 654 and terminating 9 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). E654Gfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of E654 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A E992* nonsense loss of function - predicted ARID1A E992* results in a premature truncation of the Arid1a protein at amino acid 992 of 2285 (UniProt.org). E992* has not been characterized, however, due to the effects of other truncation mutations downstream of E992 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A F1859fs frameshift loss of function - predicted ARID1A F1859fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1859 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). F1859fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of F1859 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G108fs frameshift loss of function - predicted ARID1A G108fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 108 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G108fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of G108 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G1351fs frameshift loss of function - predicted ARID1A G1351fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1351 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1351fs has not been characterized, however, due to the effects of truncation mutations downstream of G1351 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G1450fs frameshift loss of function - predicted ARID1A G1450fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1450 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1450fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1450 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G1711fs frameshift loss of function - predicted ARID1A G1711fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1711 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1711fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1711 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G1847fs frameshift loss of function - predicted ARID1A G1847fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1847 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1847fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of G1847 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G1848fs frameshift loss of function - predicted ARID1A G1848fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1848 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1848fs is associated with loss of Arid1a protein expression in a cell line in culture (PMID: 27486766), and due to the effects of other truncation mutations downstream of G1848 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G272fs frameshift loss of function - predicted ARID1A G272fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 272 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G272fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of G272 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G276* nonsense loss of function - predicted ARID1A G276* results in a premature truncation of the Arid1a protein at amino acid 276 of 2285 (UniProt.org). G276* has not been characterized, however, due to the effects of other truncation mutations downstream of G276 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G276Efs*87 frameshift loss of function - predicted ARID1A G276Efs*87 indicates a shift in the reading frame starting at amino acid 726 and terminating 87 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). G276Efs*87 has not been characterized, however, due to the effects of other truncation mutations downstream of G276 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G283fs frameshift loss of function - predicted ARID1A G283fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 283 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G283fs has not been characterized, however, due to the effects of other truncation mutations downstream of G283 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G319fs frameshift loss of function - predicted ARID1A G319fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 319 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G319fs has not been characterized, however, due to the effects of other truncation mutations downstream of G319 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G671Efs*71 frameshift loss of function - predicted ARID1A G671Efs*71 indicates a shift in the reading frame starting at amino acid 671 and terminating 71 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). G671Efs*71 has not been characterized, however, due to the effects of other truncation mutations downstream of G671 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A G925* nonsense loss of function - predicted ARID1A G925* results in a premature truncation of the Arid1a protein at amino acid 925 of 2285 (UniProt.org). G925* has not been characterized, however, due to the effects of other truncation mutations downstream of G925 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A H203fs frameshift loss of function - predicted ARID1A H203fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 203 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). H203fs has not been characterized, however, due to the effects of other truncation mutations downstream of H203 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A I1954fs frameshift loss of function - predicted ARID1A I1954fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1954 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). I1954fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1954 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A I908fs frameshift loss of function - predicted ARID1A I908fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 908 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). I908fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of I908 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A K1071fs frameshift loss of function - predicted ARID1A K1071fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1071 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). K1071fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1071 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A K1603* nonsense loss of function - predicted ARID1A K1603* results in a premature truncation of the Arid1a protein at amino acid 1603 of 2285 (UniProt.org). K1603* has not been characterized, however, due to the effects of other truncation mutations downstream of K1603 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A L1092* nonsense loss of function - predicted ARID1A L1092* results in a premature truncation of the Arid1a protein at amino acid 1092 of 2285 (UniProt.org). L1092* has not been characterized, however, due to the effects of other truncation mutations downstream of L1092 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A L657Pfs*81 frameshift loss of function - predicted ARID1A L657Pfs*81 indicates a shift in the reading frame starting at amino acid 657 and terminating 81 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). L657Pfs*81 has not been characterized, however, due to the effects of other truncation mutations downstream of Q474 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A L714fs frameshift loss of function - predicted ARID1A L714fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 714 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L714fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of L714 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A M1215fs frameshift loss of function - predicted ARID1A M1215fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1215 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1215fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of M1215 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A M1224fs frameshift loss of function - predicted ARID1A M1224fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1224 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1224fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of M1224 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A M1318fs frameshift loss of function - predicted ARID1A M1318fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1318 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1318fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1318 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A M923Hfs*13 frameshift loss of function - predicted ARID1A M923Hfs*13 indicates a shift in the reading frame starting at amino acid 923 and terminating 13 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). M923Hfs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of M923 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A N917fs frameshift loss of function - predicted ARID1A N917fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 917 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). N917fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of N917 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P1326Rfs*155 frameshift loss of function - predicted ARID1A P1326Rfs*155 indicates a shift in the reading frame starting at amino acid 1326 and terminating 155 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P1326Rfs*155 has not been characterized, however, due to the effects of other truncation mutations downstream of P1326 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P135Lfs*96 frameshift loss of function - predicted ARID1A P135Lfs*96 indicates a shift in the reading frame starting at amino acid 135 and terminating 96 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P135Lfs*96 has not been characterized, however, due to the effects of other truncation mutations downstream of P135 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P1898Hfs*25 frameshift loss of function - predicted ARID1A P1898Hfs*25 indicates a shift in the reading frame starting at amino acid 1898 and terminating 25 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P1898Hfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of P1898 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P224fs frameshift loss of function - predicted ARID1A P224fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 224 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P224fs has not been characterized, however, due to the effects of other truncation mutations downstream of P224 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P224Rfs*8 frameshift loss of function - predicted ARID1A P224Rfs*8 indicates a shift in the reading frame starting at amino acid 224 and terminating 8 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P224Rfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of P224 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P725fs frameshift loss of function - predicted ARID1A P725fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 725 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P725fs has not been characterized, however, due to the effects of other truncation mutations downstream of P725 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P886Tfs*49 frameshift loss of function - predicted ARID1A P886Tfs*49 indicates a shift in the reading frame starting at amino acid 886 and terminating 49 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P886Tfs*49 has not been characterized, however, due to the effects of other truncation mutations downstream of P886 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A P94Lfs*7 frameshift loss of function - predicted ARID1A P94Lfs*7 indicates a shift in the reading frame starting at amino acid 94 and terminating 7 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P94Lfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of P94 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1095* nonsense loss of function - predicted ARID1A Q1095* results in a premature truncation of the Arid1a protein at amino acid 1095 of 2285 (UniProt.org). Q1095* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1095 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1131* nonsense loss of function - predicted ARID1A Q1131* results in a premature truncation of the Arid1a protein at amino acid 1131 of 2285 (UniProt.org). Q1131* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1131 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1142* nonsense loss of function - predicted ARID1A Q1142* results in a premature truncation of the Arid1a protein at amino acid 1142 of 2285 (UniProt.org). Q1142* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1142 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1148* nonsense loss of function - predicted ARID1A Q1148* results in a premature truncation of the Arid1a protein at amino acid 1148 of 2285 (UniProt.org). Q1148* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1148 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1172* nonsense loss of function - predicted ARID1A Q1172* results in a premature truncation of the Arid1a protein at amino acid 1172 of 2285 (UniProt.org). Q1172* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1172 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1212* nonsense loss of function - predicted ARID1A Q1212* results in a premature truncation of the Arid1a protein at amino acid 1212 of 2285 (UniProt.org). Q1212* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1212 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1250* nonsense loss of function - predicted ARID1A Q1250* results in a premature truncation of the Arid1a protein at amino acid 1250 of 2285 (UniProt.org). Q1250* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1250 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1327fs frameshift loss of function - predicted ARID1A Q1327fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1327 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1327fs has not been characterized, however, due to the effects of truncation mutations downstream of Q1327 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1342fs frameshift loss of function - predicted ARID1A Q1342fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1342 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1342fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1342 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1346* nonsense loss of function - predicted ARID1A Q1346* results in a premature truncation of the Arid1a protein at amino acid 1346 of 2285 (UniProt.org). Q1346* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1346 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1401* nonsense loss of function - predicted ARID1A Q1401* results in a premature truncation of the Arid1a protein at amino acid 1401 of 2285 (UniProt.org). Q1401* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1401 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1409* nonsense loss of function - predicted ARID1A Q1409* results in a premature truncation of the Arid1a protein at amino acid 1409 of 2285 (UniProt.org). Q1409* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1409 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1479* nonsense loss of function - predicted ARID1A Q1479* results in a premature truncation of the Arid1a protein at amino acid 1479 of 2285 (UniProt.org). Q1479* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1479 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1493* nonsense loss of function - predicted ARID1A Q1493* results in a premature truncation of the Arid1a protein at amino acid 1493 of 2285 (UniProt.org). Q1493* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1493 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1512* nonsense loss of function - predicted ARID1A Q1512* results in a premature truncation of the Arid1a protein at amino acid 1512 of 2285 (UniProt.org). Q1512* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1512 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1519* nonsense loss of function - predicted ARID1A Q1519* results in a premature truncation of the Arid1a protein at amino acid 1519 of 2285 (UniProt.org). Q1519* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1519 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1519fs frameshift loss of function - predicted ARID1A Q1519fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1519 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1519fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1519 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1519Pfs*13 frameshift loss of function - predicted ARID1A Q1519Pfs*13 indicates a shift in the reading frame starting at amino acid 1519 and terminating 13 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q1519Pfs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1519 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1519Rfs*8 frameshift loss of function - predicted ARID1A Q1519Rfs*8 indicates a shift in the reading frame starting at amino acid 1519 and terminating 8 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q1519Rfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1519 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1584* nonsense loss of function - predicted ARID1A Q1584* results in a premature truncation of the Arid1a protein at amino acid 1584 of 2285 (UniProt.org). Q1584* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1584 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1631* nonsense loss of function - predicted ARID1A Q1631* results in a premature truncation of the Arid1a protein at amino acid 1631 of 2285 (UniProt.org). Q1631* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1631 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1741* nonsense loss of function - predicted ARID1A Q1741* results in a premature truncation of the Arid1a protein at amino acid 1741 of 2285 (UniProt.org). Q1741* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1741 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1856* nonsense loss of function - predicted ARID1A Q1856* results in a premature truncation of the Arid1a protein at amino acid 1856 of 2285 (UniProt.org). Q1856* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1856 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q1894* nonsense loss of function - predicted ARID1A Q1894* results in a premature truncation of the Arid1a protein at amino acid 1894 of 2285 (UniProt.org). Q1894* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1894 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q199fs frameshift loss of function - predicted ARID1A Q199fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 199 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q199fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q199 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q288Pfs*112 frameshift loss of function - predicted ARID1A Q288Pfs*112 indicates a shift in the reading frame starting at amino acid 288 and terminating 112 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q288Pfs*112 has not been characterized, however, due to the effects of other truncation mutations downstream of Q288 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q372Afs*28 frameshift loss of function - predicted ARID1A Q372Afs*28 indicates a shift in the reading frame starting at amino acid 372 and terminating 28 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q372Afs*28 has not been characterized, however, due to the effects of other truncation mutations downstream of Q372 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q372Sfs*19 frameshift loss of function - predicted ARID1A Q372Sfs*19 indicates a shift in the reading frame starting at amino acid 372 and terminating 19 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q372Sfs*19 has not been characterized, however, due to the effects of other truncation mutations downstream of Q372 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q393* nonsense loss of function - predicted ARID1A Q393* results in a premature truncation of the Arid1a protein at amino acid 393 of 2285 (UniProt.org). Q393* has not been characterized, however, due to the effects of other truncation mutations downstream of Q393 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q393fs frameshift loss of function - predicted ARID1A Q393fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 393 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q393fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q393 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function
ARID1A Q403* nonsense loss of function - predicted ARID1A Q403* results in a premature truncation of the Arid1a protein at amino acid 403 of 2285 (UniProt.org). Q403* has not been characterized, however, due to the effects of other truncation mutations downstream of Q403 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q449* nonsense loss of function - predicted ARID1A Q449* results in a premature truncation of the Arid1a protein at amino acid 449 of 2285 (UniProt.org). Q449* has not been characterized, however, due to the effects of other truncation mutations downstream of Q449 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q474* nonsense loss of function - predicted ARID1A Q474* results in a premature truncation of the Arid1a protein at amino acid 474 of 2285 (UniProt.org). Q474* has not been characterized, however, due to the effects of other truncation mutations downstream of Q474 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q479* nonsense loss of function - predicted ARID1A Q479* results in a premature truncation of the Arid1a protein at amino acid 479 of 2285 (UniProt.org). Q479* has not been characterized, however, due to the effects of other truncation mutations downstream of Q479 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q480* nonsense loss of function - predicted ARID1A Q480* results in a premature truncation of the Arid1a protein at amino acid 480 of 2285 (UniProt.org). Q480* has not been characterized, however, due to the effects of other truncation mutations downstream of Q480 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q502* nonsense loss of function - predicted ARID1A Q502* results in a premature truncation of the Arid1a protein at amino acid 502 of 2285 (UniProt.org). Q502* results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Q502 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q507fs frameshift loss of function - predicted ARID1A Q507fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 507 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q507fs has been identified in the scientific literature (PMID: 32868822), but has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of Q507 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q515* nonsense loss of function - predicted ARID1A Q515* results in a premature truncation of the Arid1a protein at amino acid 515 of 2285 (UniProt.org). Q515* has not been characterized, however, due to the effects of other truncation mutations downstream of Q515 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q528* nonsense loss of function - predicted ARID1A Q528* results in a premature truncation of the Arid1a protein at amino acid 528 of 2285 (UniProt.org). Q528* has not been characterized, however, due to the effects of other truncation mutations downstream of Q528 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q537* nonsense loss of function - predicted ARID1A Q537* results in a premature truncation of the Arid1a protein at amino acid 537 of 2285 (UniProt.org). Q537* has been identified in the scientific literature (PMID: 32868822), but has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of Q537 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q543* nonsense loss of function - predicted ARID1A Q543* results in a premature truncation of the Arid1a protein at amino acid 543 of 2285 (UniProt.org). Q543* has not been characterized, however, due to the effects of other truncation mutations downstream of Q543 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q546Rfs*73 frameshift loss of function - predicted ARID1A Q546Rfs*73 indicates a shift in the reading frame starting at amino acid 546 and terminating 73 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q546Rfs*73 has not been characterized, however, due to the effects of other truncation mutations downstream of Q546 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q548fs frameshift loss of function - predicted ARID1A Q548fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 548 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q548fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Q548 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q566* nonsense loss of function - predicted ARID1A Q566* results in a premature truncation of the Arid1a protein at amino acid 566 of 2285 (UniProt.org). Q566* has not been characterized, however, due to the effects of other truncation mutations downstream of Q566 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q581* nonsense loss of function - predicted ARID1A Q581* results in a premature truncation of the Arid1a protein at amino acid 581 of 2285 (UniProt.org). Q581* results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Q581 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q585* nonsense loss of function - predicted ARID1A Q585* results in a premature truncation of the Arid1a protein at amino acid 585 of 2285 (UniProt.org). Q585* has not been characterized, however, due to the effects of other truncation mutations downstream of Q585 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q611Rfs*11 frameshift loss of function - predicted ARID1A Q611Rfs*11 indicates a shift in the reading frame starting at amino acid 611 and terminating 11 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q611Rfs*11 has not been characterized, however, due to the effects of other truncation mutations downstream of Q611 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q633* nonsense loss of function - predicted ARID1A Q633* results in a premature truncation of the Arid1a protein at amino acid 633 of 2285 (UniProt.org). Q633* has not been characterized, however, due to the effects of other truncation mutations downstream of Q633 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q670* nonsense loss of function - predicted ARID1A Q670* results in a premature truncation of the Arid1a protein at amino acid 670 of 2285 (UniProt.org). Q670* has not been characterized, however, due to the effects of other truncation mutations downstream of R693 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q708* nonsense loss of function - predicted ARID1A Q708* results in a premature truncation of the Arid1a protein at amino acid 708 of 2285 (UniProt.org). Q708* has not been characterized, however, due to the effects of other truncation mutations downstream of Q708 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q790* nonsense loss of function - predicted ARID1A Q790* results in a premature truncation of the Arid1a protein at amino acid 790 of 2285 (UniProt.org). Q790* has not been characterized, however, due to the effects of other truncation mutations downstream of Q790 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q878* nonsense loss of function - predicted ARID1A Q878* results in a premature truncation of the Arid1a protein at amino acid 878 of 2285 (UniProt.org). Q878* has not been characterized, however, due to the effects of other truncation mutations downstream of Q878 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q920* nonsense loss of function - predicted ARID1A Q920* results in a premature truncation of the Arid1a protein at amino acid 920 of 2285 (UniProt.org). Q920* has not been characterized, however, due to the effects of other truncation mutations downstream of Q920 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Q944* nonsense loss of function - predicted ARID1A Q944* results in a premature truncation of the Arid1a protein at amino acid 944 of 2285 (UniProt.org). Q944* has not been characterized, however, due to the effects of other truncation mutations downstream of Q944 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1276* nonsense loss of function - predicted ARID1A R1276* results in a premature truncation of the Arid1a protein at amino acid 1276 of 2285 (UniProt.org). R1276* has not been characterized, however, due to the effects of other truncation mutations downstream of R1276 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1335* nonsense loss of function - predicted ARID1A R1335* results in a premature truncation of the Arid1a protein at amino acid 1335 of 2285 (UniProt.org). R1335* has not been characterized, however, due to the effects of other truncation mutations downstream of R1335 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1446* nonsense loss of function - predicted ARID1A R1446* results in a premature truncation of the Arid1a protein at amino acid 1446 of 2285 (UniProt.org). R1446* has not been characterized, however, due to the effects of other truncation mutations downstream of R1446 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1461* nonsense loss of function - predicted ARID1A R1461* results in a premature truncation of the Arid1a protein at amino acid 1461 of 2285 (UniProt.org). R1461* has not been characterized, however, due to the effects of other truncation mutations downstream of R1461 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1528* nonsense loss of function - predicted ARID1A R1528* results in a premature truncation of the Arid1a protein at amino acid 1528 of 2285 (UniProt.org). R1528* has not been characterized, however, due to the effects of other truncation mutations downstream of R1528 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1721* nonsense loss of function - predicted ARID1A R1721* results in a premature truncation of the Arid1a protein at amino acid 1721 of 2285 (UniProt.org). R1721* has not been characterized, however, due to the effects of other truncation mutations downstream of R1721 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1721fs frameshift loss of function - predicted ARID1A R1721fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1721 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R1721fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1721 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1722* nonsense loss of function - predicted ARID1A R1722* results in a premature truncation of the Arid1a protein at amino acid 1722 of 2285 (UniProt.org). R1722* has not been characterized, however, due to the effects of other truncation mutations downstream of R1722 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R1989* nonsense loss of function - predicted ARID1A R1989* results in a premature truncation of the Arid1a protein at amino acid 1989 of 2285 (UniProt.org). R1989* is associated with loss of Arid1a protein expression in cell culture (PMID: 29736026), and therefore, is predicted to confer a loss of function to the Arid1a protein.
ARID1A R693* nonsense loss of function - predicted ARID1A R693* results in a premature truncation of the Arid1a protein at amino acid 693 of 2285 (UniProt.org). R693* has not been characterized, however, due to the effects of other truncation mutations downstream of R693 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R727fs frameshift loss of function - predicted ARID1A R727fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 727 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R727fs has not been characterized, however, due to the effects of other truncation mutations downstream of R727 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R750* nonsense loss of function - predicted ARID1A R750* results in a premature truncation of the Arid1a protein at amino acid 750 of 2285 (UniProt.org). R750* has not been characterized, however, due to the effects of other truncation mutations downstream of R750 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A R774Efs*55 frameshift loss of function - predicted ARID1A R774Efs*55 indicates a shift in the reading frame starting at amino acid 774 and terminating 55 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). R774Efs*55 has not been characterized, however, due to the effects of other truncation mutations downstream of R774 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S1153fs frameshift loss of function - predicted ARID1A S1153fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1153 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S1153fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of S1153 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S11fs frameshift loss of function - predicted ARID1A S11fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 11 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S11fs has not been characterized, however, due to the effects of other truncation mutations downstream of S11 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S1248* nonsense loss of function - predicted ARID1A S1248* results in a premature truncation of the Arid1a protein at amino acid 1248 of 2285 (UniProt.org). S1248* has not been characterized, however, due to the effects of other truncation mutations downstream of S1248 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S1623* nonsense loss of function - predicted ARID1A S1623* results in a premature truncation of the Arid1a protein at amino acid 1623 of 2285 (UniProt.org). S1623* has not been characterized, however, due to the effects of other truncation mutations downstream of S1623 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S1791* nonsense loss of function - predicted ARID1A S1791* results in a premature truncation of the Arid1a protein at amino acid 1791 of 2285 (UniProt.org). S1791* has not been characterized, however, due to the effects of other truncation mutations downstream of S1791 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S261* nonsense loss of function - predicted ARID1A S261* results in a premature truncation of the Arid1a protein at amino acid 261 of 2285 (UniProt.org). S261* has not been characterized, however, due to the effects of other truncation mutations downstream of S261 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S264* nonsense loss of function - predicted ARID1A S264* results in a premature truncation of the Arid1a protein at amino acid 264 of 2285 (UniProt.org). S264* has not been characterized, however, due to the effects of other truncation mutations downstream of S264 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S584fs frameshift loss of function - predicted ARID1A S584fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 584 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S584fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of S584 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S617* nonsense loss of function - predicted ARID1A S617* results in a premature truncation of the Arid1a protein at amino acid 617 of 2285 (UniProt.org). S617* has not been characterized, however, due to the effects of other truncation mutations downstream of S617 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S664* nonsense loss of function - predicted ARID1A S664* results in a premature truncation of the Arid1a protein at amino acid 664 of 2285 (UniProt.org). S664* has not been characterized, however, due to the effects of other truncation mutations downstream of S664 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S674fs frameshift loss of function - predicted ARID1A S674fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 674 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S674fs has not been characterized, however, due to the effects of other truncation mutations downstream of S674 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S705fs frameshift loss of function - predicted ARID1A S705fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 705 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S705fs has not been characterized, however, due to the effects of other truncation mutations downstream of S705 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S769* nonsense loss of function - predicted ARID1A S769* results in a premature truncation of the Arid1a protein at amino acid 769 of 2285 (UniProt.org). S769* has not been characterized, however, due to the effects of other truncation mutations downstream of S769 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S825fs frameshift loss of function - predicted ARID1A S825fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 825 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S825fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of S825 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A S958Lfs*10 frameshift loss of function - predicted ARID1A S958Lfs*10 indicates a shift in the reading frame starting at amino acid 958 and terminating 10 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). S958Lfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of S958 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A T1003fs frameshift loss of function - predicted ARID1A T1003fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1003 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). T1003fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of T1003 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A T292fs frameshift loss of function - predicted ARID1A T292fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 292 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). T292fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of T292 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A T294Pfs*69 frameshift loss of function - predicted ARID1A T294Pfs*69 indicates a shift in the reading frame starting at amino acid 294 and terminating 69 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T294Pfs*69 has not been characterized, however, due to the effects of other truncation mutations downstream of T294 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A T897Lfs*22 frameshift loss of function - predicted ARID1A T897Lfs*22 indicates a shift in the reading frame starting at amino acid 897 and terminating 22 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T897Lfs*22 has not been characterized, however, due to the effects of other truncation mutations downstream of T897 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A V1561fs frameshift loss of function - predicted ARID1A V1561fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1561 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). V1561fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1561 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A W1073* nonsense loss of function - predicted ARID1A W1073* results in a premature truncation of the Arid1a protein at amino acid 1073 of 2285 (UniProt.org). W1073* has not been characterized, however, due to the effects of other truncation mutations downstream of W1073 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A W1545* nonsense loss of function - predicted ARID1A W1545* results in a premature truncation of the Arid1a protein at amino acid 1545 of 2285 (UniProt.org). W1545* has not been characterized, however, due to the effects of other truncation mutations downstream of W1545 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A W1670* nonsense loss of function - predicted ARID1A W1670* results in a premature truncation of the Arid1a protein at amino acid 1670 of 2285 (UniProt.org). W1670* has not been characterized, however, due to the effects of other truncation mutations downstream of W1670 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A W1973* nonsense loss of function - predicted ARID1A W1973* results in a premature truncation of the Arid1a protein at amino acid 1973 of 2285 (UniProt.org). W1973* has not been characterized, however, due to the effects of other truncation mutations downstream of W1973 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y1285fs frameshift loss of function - predicted ARID1A Y1285fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1285 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y1285fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Y1285 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y1324fs frameshift loss of function - predicted ARID1A Y1324fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1324 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y1324fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Y1324 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y1431* nonsense loss of function - predicted ARID1A Y1431* results in a premature truncation of the Arid1a protein at amino acid 1431 of 2285 (UniProt.org). Y1431* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1431 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y395* nonsense loss of function - predicted ARID1A Y395* results in a premature truncation of the Arid1a protein at amino acid 395 of 2285 (UniProt.org). Y395* has not been characterized, however, due to the effects of other truncation mutations downstream of Y395 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y551Tfs*68 frameshift loss of function - predicted ARID1A Y551Tfs*68 indicates a shift in the reading frame starting at amino acid 551 and terminating 68 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Y551Tfs*68 has not been characterized, however, due to the effects of other truncation mutations downstream of Y551 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y592* nonsense loss of function - predicted ARID1A Y592* results in a premature truncation of the Arid1a protein at amino acid 592 of 2285 (UniProt.org). Y592* has not been characterized, however, due to the effects of other truncation mutations downstream of Y592 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
ARID1A Y823fs frameshift loss of function - predicted ARID1A Y823fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 823 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y823fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Y823 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID1A loss ovarian cancer predicted - sensitive unspecified PD-L1 antibody Preclinical Actionable In a preclinical study, an ARID1A-deficient orthotopic ovarian cancer mouse model treated with a PD-L1 antibody demonstrated improved survival and greater decreased tumor volume compared to those treated with control (PMID: 29736026). 29736026
ARID1A loss colon cancer predicted - sensitive unspecified PD-L1 antibody Preclinical - Cell line xenograft Actionable In a preclinical study, ARID1A-deficient colon cancer xenograft models demonstrated an increased response to treatment with an anti-PD-L1 antibody compared to controls (PMID: 29736026). 29736026