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Gene Symbol ARID1A
Synonyms B120 | BAF250 | BAF250a | BM029 | C1orf4 | CSS2 | ELD | hELD | hOSA1 | MRD14 | OSA1 | P270 | SMARCF1
Gene Description ARID1A, AT-rich interaction domain 1A, is a member of the cBaF subunit (PMID: 32303701) of the SWI/SNF chromatin remodeling complex and is involved in cell-cycle activation (PMID: 29136504). ARID1A has been reported to influence PI3K/AKT pathways (PMID: 24618703), and loss of function is commonly found in ovarian clear cell carcinoma (PMID: 32020380, PMID: 32027624), gastric, colorectal (PMID: 28937020), and bladder cancers (PMID: 28583311), while in liver cancer, Arida1a has a context dependent role (PMID: 29136504) and ARID1A promoter hypermethylation has been observed in squamous cell carcinoma (PMID: 32015157).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function ARID1A inact mut indicates that this variant results in a loss of function of the Arid1a protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ARID1A mutant indicates an unspecified mutation in the ARID1A gene.
A2175fs frameshift unknown ARID1A A2175fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2175 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). A2175fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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.
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.
F2208fs frameshift unknown ARID1A F2208fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2208 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). F2208fs has been identified in the scientific literature (PMID: 32868822), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
I2185fs frameshift unknown ARID1A I2185fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2185 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). I2185fs has been identified in the scientific literature (PMID: 32868822), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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.
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.
L2279fs frameshift unknown ARID1A L2279fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2279 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L2279fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Q2039fs frameshift unknown ARID1A Q2039fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2039 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q2039fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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
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.
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.
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.
R2158fs frameshift unknown ARID1A R2158fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2158 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R2158fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jul 2020).
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.
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.
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.
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.
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.
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.
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.
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.
T2138fs frameshift unknown ARID1A T2138fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2138 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). T2138fs has been identified in the scientific literature (PMID: 32868822), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2020).
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.
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.
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.
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.
Y2076fs frameshift unknown ARID1A Y2076fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2076 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2076fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jun 2020).
Y2254fs frameshift unknown ARID1A Y2254fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2254 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2254fs has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
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.