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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
A1434V missense unknown ARID1A A1434V does not lie within any known functional domains of the Arid1a protein (UniProt.org). A1434V has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
A1522T missense unknown ARID1A A1522T does not lie within any known functional domains of the Arid1a protein (UniProt.org). A1522T has been identified in sequencing studies (PMID: 27284491), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
A1757S missense unknown ARID1A A1757S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). A1757S has been identified in sequencing studies (PMID: 26288819), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
A2205T missense unknown ARID1A A2205T lies within the GR binding domain of the Arid1a protein (PMID: 23208470). A2205T has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
A344_A348del deletion loss of function ARID1A A344_A348del results in the deletion of five amino acids of the Arid1a protein from amino acid 344 to 348 (UniProt.org). A344_A348del leads to a loss of Arid1a protein function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632).
A345P missense unknown ARID1A A345P does not lie within any known functional domains of the Arid1a protein (UniProt.org). A345P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
amp none no effect ARID1A amplification indicates an increased number of copies of the ARID1A gene. However, the mechanism causing the increase is unspecified.
ARID1A - MAST2 fusion gain of function - predicted ARID1A-MAST2 results from the fusion of ARID1A and MAST2 and leads to increased cell proliferation in culture (PMID: 22101766), and is therefore predicted to result in a gain of function. ARID1A-MAST2 has been identified in breast carcinoma (PMID: 22101766).
C2163R missense unknown ARID1A C2163R lies within the GR binding domain of the Arid1a protein (PMID: 23208470). C2163R has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of D1838 (PMID: 29736026), D1838* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of D1850 (PMID: 29736026), D1850Gfs*4 is predicted to lead to a loss of Arid1a protein function.
D2086N missense unknown ARID1A D2086N lies within an LXXLL motif of the Arid1a protein (UniProt.org). D2086N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
D2157N missense unknown ARID1A D2157N lies within the GR binding domain of the Arid1a protein (PMID: 23208470). D2157N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
D734G missense unknown ARID1A D734G does not lie within any known functional domains of the Arid1a protein (UniProt.org). D734G has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
dec exp none no effect ARID1A dec exp indicates decreased expression of the Arid1a protein. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function ARID1A del indicates a deletion of the ARID1A gene.
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 truncation mutations downstream of E1596 (PMID: 26069190, PMID: 29736026), E1596* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of E1764 (PMID: 29736026), E1764* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of E1776 (PMID: 29736026), E1776* is predicted to lead to a loss of Arid1a protein function.
E1779G missense unknown ARID1A E1779G lies within the GR binding domain of the Arid1a protein (PMID: 23208470). E1779G has been identified in sequencing studies (PMID: 24382590, PMID: 27203738, PMID: 29136510), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of E1780 (PMID: 29736026), E1780* is predicted to lead to a loss of Arid1a protein function.
E2000Q missense unknown ARID1A E2000Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). E2000Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
E2047* nonsense unknown ARID1A E2047* results in a premature truncation of the Arid1a protein at amino acid 2047 of 2285 (UniProt.org). E2047* has been identified in the scientific literature (PMID: 20942669), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), E654Gfs*9 is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), E992* is predicted to lead to a loss of Arid1a protein function.
G1317W missense unknown ARID1A G1317W does not lie within any known functional domains of the Arid1a protein (UniProt.org). G1317W has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of G1450 (PMID: 26069190, PMID: 29736026), G1450fs is predicted to lead to a loss of Arid1a protein function.
G1729D missense unknown ARID1A G1729D lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1729D has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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), G1848fs is predicted to lead to a loss of Arid1a protein function.
G1848W missense unknown ARID1A G1848W lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1848W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
G1996D missense unknown ARID1A G1996D lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1996D has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
G2087E missense unknown ARID1A G2087E lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087E has been identified in sequencing studies (PMID: 24816253, PMID: 26503331), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
G2087K missense unknown ARID1A G2087K lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087K has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
G2087R missense loss of function - predicted ARID1A G2087R lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087R in the context of a C-terminal domain Arid1a construct demonstrates similar binding to Smarca4, Smarcc1 and Smarcd1 as compared to wild-type, but results in increased poly-ubiquitination and reduced protein stability (PMID: 30343899), and therefore, is predicted to result in a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), G276* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), G276Efs*87 is predicted to lead to a loss of Arid1a protein function.
G313E missense unknown ARID1A G313E does not lie within any known functional domains of the Arid1a protein (UniProt.org). G313E has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Nov 2019).
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). Due to the loss of the GR binding domain (PMID: 23208470), G319fs is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of most known functional domains (UniProt.org), G671Efs*71 is predicted to lead to a loss of Arid1a protein function.
G691D missense unknown ARID1A G691D does not lie within any known functional domains of the Arid1a protein (UniProt.org). G691D has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), G925* 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). Due to the loss of all known functional domains (UniProt.org), H203fs is predicted to lead to a loss of Arid1a protein function.
H203Q missense unknown ARID1A H203Q does not lie within any known functional domains of the Arid1a protein (UniProt.org). H203Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
I2127M missense unknown ARID1A I2127M lies within the GR binding domain of the Arid1a protein (PMID: 23208470). I2127M has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
I2135_L2136del deletion unknown ARID1A I2135_L2136del results in the deletion of two amino acids of the Arid1a protein from amino acid 2135 to 2136 (UniProt.org). I2135_L2136del has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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.
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 truncation mutations downstream of K1071 (PMID: 26069190, PMID: 29736026), K1071fs is predicted to lead to a loss of Arid1a protein function.
K1862N missense unknown ARID1A K1862N lies within the GR binding domain of the Arid1a protein (PMID: 23208470). K1862N has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
K996N missense unknown ARID1A K996N does not lie within any known functional domains of the Arid1a protein (UniProt.org). K996N has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2019).
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 truncation mutations downstream of L1092 (PMID: 26069190, PMID: 29736026), L1092* is predicted to lead to a loss of Arid1a protein function.
L1713P missense unknown ARID1A L1713P lies within the LXXLL motif of the Arid1a protein (UniProt.org). L1713P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
L2007del deletion loss of function ARID1A L2007del results in the deletion of one amino acid in the GR binding domain of the Arid1a protein (PMID: 23208470). L2007del confers a loss of function to the Arid1a protein as demonstrated by increased Arid1a protein degradation and increased cell proliferation in culture (PMID: 23097632).
L2009_L2017del deletion loss of function ARID1A L2009_L2017del results in the deletion of nine amino acids in the nuclear export signal motif of the Arid1a protein (UniProt.org, PMID: 23097632). L2009_L2017del confers a loss of function to the Arid1a protein as demonstrated by increased ubiquitination followed by proteosomal degradation, which results in increased cell proliferation in culture (PMID: 23097632).
L2239P missense unknown ARID1A L2239P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). L2239P has been identified in sequencing studies (PMID: 32188081), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2020).
loss unknown loss of function ARID1A loss indicates loss of the ARID1A gene, mRNA, and protein.
M1224V missense unknown ARID1A M1224V does not lie within any known functional domains of the Arid1a protein (UniProt.org). M1224V has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of M1318 (PMID: 26069190, PMID: 29736026), M1318fs is predicted to lead to a loss of Arid1a protein function.
M918V missense unknown ARID1A M918V does not lie within any known functional domains of the Arid1a protein (UniProt.org). M918V has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
mutant unknown unknown ARID1A mutant indicates an unspecified mutation in the ARID1A gene.
N1705S missense unknown ARID1A N1705S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). N1705S has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
N1800Y missense unknown ARID1A N1800Y lies within the GR binding domain of the Arid1a protein (PMID: 23208470). N1800Y has been identified in sequencing studies (PMID: 30342036), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
N982del deletion unknown ARID1A N982del results in the deletion of one amino acid of the Arid1a protein at amino acid 982 (UniProt.org). N982del has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
negative unknown loss of function ARID1A negative indicates a lack of the ARID1A gene, mRNA, and/or protein.
P1048S missense unknown ARID1A P1048S lies within the ARID domain of the Arid1a protein (UniProt.org). P1048S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P1144S missense unknown ARID1A P1144S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P1144S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P1326_Q1327del deletion unknown ARID1A P1326_Q1327del results in the deletion of two amino acids in the Arid1a protein from amino acids 1326 to 1327 (UniProt.org). P1326_Q1327del has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P1619L missense unknown ARID1A P1619L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P1619L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of P1898 (PMID: 29736026), P1898Hfs*25 is predicted to lead to a loss of Arid1a protein function.
P20_P21dup duplication loss of function ARID1A P20_P21dup (also reported as P16_P17dup) indicates the insertion of 2 duplicate amino acids, proline (P)-20 through proline (P)-21, in the Arid1a protein (UniProt.org). P20_P21dup (reported as P16_P17dup) leads to a loss of Arid1a function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632).
P2114L missense unknown ARID1A P2114L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). P2114L has been identified in the scientific literature (PMID: 30318721), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P2114Q missense unknown ARID1A P2114Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). P2114Q has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), P224fs is predicted to lead to a loss of Arid1a protein function.
P478del deletion unknown ARID1A P478del results in the deletion of one amino acid of the Arid1a protein at amino acid 478 (UniProt.org). P478del has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P531L missense unknown ARID1A P531L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P531L has been identified in the scientific literature (PMID: 22249247), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
P773S missense unknown ARID1A P773S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P773S has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P776L missense unknown ARID1A P776L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P776L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P776R missense unknown ARID1A P776R does not lie within any known functional domains of the Arid1a protein (UniProt.org). P776R has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P885L missense unknown ARID1A P885L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P885L has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
P887S missense unknown ARID1A P887S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P887S has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of Q1095 (PMID: 26069190, PMID: 29736026), Q1095* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of Q1131 (PMID: 26069190, PMID: 29736026), Q1131* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of Q1148 (PMID: 26069190, PMID: 29736026), Q1148* is predicted to lead to a loss of Arid1a protein function.
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, because other truncation mutations downstream of Q1172 are inactivating, Q1172* is predicted to lead to a loss of Arid1a protein function (PMID: 26069190).
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 truncation mutations downstream of Q1212 (PMID: 26069190, PMID: 29736026), Q1212* is predicted to lead to a loss of Arid1a protein function.
Q1327del deletion unknown ARID1A Q1327del results in the deletion of one amino acid in the Arid1a protein at amino acid 1327 (UniProt.org). Q1327del has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
Q1334del deletion unknown ARID1A Q1334del results in the deletion of one amino acid in the Arid1a protein at amino acid 1334 (UniProt.org). Q1334del has been identified in the scientific literature (PMID: 23097632, PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
Q1334_R1335insQ insertion loss of function ARID1A Q1334_R1335insQ results in the insertion of one amino acid in the glutamine-rich region of the Arid1a protein between amino acids 1334 and 1335 (UniProt.org). Q1334_R1335insQ leads to a loss of Arid1a function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632).
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). Due to the loss of the GR binding domain (PMID: 23208470), Q1342fs is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of the GR binding domain (PMID: 23208470), Q1401* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of the GR binding domain (PMID: 23208470), Q1409* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of Q1479 (PMID: 26069190, PMID: 29736026), Q1479* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of the GR binding domain (PMID: 23208470), Q1493* is predicted to lead to a loss of Arid1a protein function.
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). R1512* has not been characterized, however, due to the effects of truncation mutations downstream of R1512 (PMID: 26069190, 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, because other truncation mutations downstream of Q1519 are inactivating (PMID: 26069190), Q1519fs is predicted to lead to a loss of Arid1a protein function.
Q1519H missense unknown ARID1A Q1519H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q1519H has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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, because other truncation mutations downstream of Q1519 are inactivating (PMID: 26069190), Q1519Pfs*13 is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of the GR binding domain (PMID: 23208470), Q1584* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of Q1631 (PMID: 26069190, PMID: 29736026), Q1631* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of Q1741 (PMID: 26069190, PMID: 29736026), Q1741* is predicted to lead to a loss of Arid1a protein function.
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 biochemically characterized, however, due to the effects of truncation mutations downstream of Q1856 (PMID: 29736026), Q1856* is predicted to lead to a loss of Arid1a protein function.
Q1856H missense unknown ARID1A Q1856H lies within the GR binding domain of the Arid1a protein (PMID: 23208470). Q1856H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of Q1894 (PMID: 29736026), Q1894* is predicted to lead to a loss of Arid1a protein function.
Q2209* nonsense unknown ARID1A Q2209* results in a premature truncation of the Arid1a protein at amino acid 2209 of 2285 (UniProt.org). Q2209* has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), Q372Afs*28 is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q393fs is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q403* is predicted to lead to a loss of Arid1a protein function.
Q456* nonsense loss of function ARID1A Q456* results in a premature truncation of the Arid1a protein at amino acid 456 of 2285 (UniProt.org). Q456* confers a loss of function to the Arid1a protein as demonstrated by loss of Arid1a protein expression, disruption of the G2-M cell cycle checkpoint, decreased gamma-H2AX and 53BP1 foci, and decreased efficiency of homologous recombination and single-strand annealing repair of DNA in cultured cells (PMID: 26069190).
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). Due to the loss of all known functional domains (UniProt.org), Q479* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of most known functional domains (UniProt.org), Q480* is predicted to result in a loss of Arid1a protein function.
Q492H missense unknown ARID1A Q492H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q492H has been identified in sequencing studies (PMID: 22941189, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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, because other truncation mutations downstream of Q515 are inactivating (PMID: 26069190), Q515* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q528* is predicted to lead to a loss of Arid1a protein function.
Q528L missense unknown ARID1A Q528L does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q528L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), Q543* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q546Rfs*73 is predicted to lead to a loss of Arid1a protein function.
Q561H missense unknown ARID1A Q561H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q561H has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), Q566* is predicted to lead to a loss of Arid1a protein function.
Q594R missense unknown ARID1A Q594R does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q594R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2019).
Q611H missense unknown ARID1A Q611H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q611H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), Q611Rfs*11 is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q633* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q708* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q790* is predicted to lead to a loss of Arid1a protein function.
Q840R missense unknown ARID1A Q840R does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q840R has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), Q878* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q920* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Q944* is predicted to lead to a loss of Arid1a protein function.
R1046K missense unknown ARID1A R1046K lies within the ARID domain of the Arid1a protein (UniProt.org). R1046K has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R1223C missense unknown ARID1A R1223C does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223C has been identified in sequencing studies (PMID: 22810696, PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
R1223H missense unknown ARID1A R1223H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223H has been identified in sequencing studies (PMID: 26489445), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R1262H missense unknown ARID1A R1262H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1262H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of the GR binding domain (PMID: 23208470), R1276* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of the GR binding domain (PMID: 23208470), R1335* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of R1446 (PMID: 26069190, PMID: 29736026), R1446* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of R1528 (PMID: 26069190, PMID: 29736026), R1528* is predicted to lead to a loss of Arid1a protein function.
R1658Q missense unknown ARID1A R1658Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1658Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 truncation mutations downstream of R1721 (PMID: 26069190, PMID: 29736026), R1721* 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 truncation mutations downstream of R1721 (PMID: 26069190, PMID: 29736026), R1721fs is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of R1722 (PMID: 26069190, PMID: 29736026), R1722* is predicted to lead to a loss of Arid1a protein function.
R1906P missense unknown ARID1A R1906P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R1906Q missense unknown ARID1A R1906Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906Q has been identified in sequencing studies (PMID: 26744134), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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 culture and therefore, is predicted to confer a loss of function on the Arid1a protein (PMID: 29736026).
R2143C missense unknown ARID1A R2143C lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2143C has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
R2143H missense unknown ARID1A R2143H lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2143H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R2158* nonsense unknown ARID1A R2158* results in a premature truncation of the Arid1a protein at amino acid 2158 of 2285 (UniProt.org). R2158* has been identified in sequencing studies (PMID: 20942669, PMID: 26336887), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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, Jan 2020).
R2158Q missense unknown ARID1A R2158Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2158Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R2232W missense unknown ARID1A R2232W lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2232W has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), R693* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), R727fs is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), R750* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), R774Efs*55 is predicted to lead to a loss of Arid1a protein function.
S1000F missense unknown ARID1A S1000F lies within the poly-serine region of the Arid1a protein (UniProt.org). S1000F has been identified in sequencing studies (PMID: 25225064, PMID: 31202631), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S1000Y missense unknown ARID1A S1000Y lies within the poly-serine region of the Arid1a protein (UniProt.org). S1000Y has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S1090I missense unknown ARID1A S1090I lies within the ARID domain of the Arid1a protein (UniProt.org). S1090I has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S1197C missense unknown ARID1A S1197C does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1197C has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2020).
S1197P missense unknown ARID1A S1197P does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1197P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), S11fs is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of S1248 (PMID: 26069190, PMID: 29736026), S1248* is predicted to lead to a loss of Arid1a protein function.
S1707G missense unknown ARID1A S1707G does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1707G has not been characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Nov 2019).
S186_G187del deletion unknown ARID1A S186_G187del results in the deletion of two amino acids of the Arid1a protein from amino acids 186 to 187 (UniProt.org). S186_G187del has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S1992* nonsense unknown ARID1A S1992* results in a premature truncation of the Arid1a protein at amino acid 1992 of 2285 (UniProt.org). S1992* has been identified in sequencing studies (PMID: 24121792, PMID: 28984400), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S1992P missense unknown ARID1A S1992P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1992P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).
S2104F missense unknown ARID1A S2104F lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2104F has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S2104P missense unknown ARID1A S2104P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2104P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S2191_G2193del deletion unknown ARID1A S2191_G2193del results in the deletion of three amino acids of the Arid1a protein from amino acid 2191 to 2193 (UniProt.org). S2191_G2193del has been identified in sequencing studies (PMID: 22561517), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
S2269L missense unknown ARID1A S2269L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2269L has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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). Due to the loss of all known functional domains (UniProt.org), S617* is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), S664* 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). Due to the loss of all known functional domains (UniProt.org), S674fs 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). Due to the loss of the GR binding domain (PMID: 23208470), S705fs is predicted to lead to a loss of Arid1a protein function.
S735N missense unknown ARID1A S735N does not lie within any known functional domains of the Arid1a protein (UniProt.org). S735N has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2019).
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). Due to the loss of all known functional domains (UniProt.org), S769* is predicted to lead to a loss of Arid1a protein function.
T1987S missense unknown ARID1A T1987S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). T1987S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
T2063Nfs*36 frameshift unknown ARID1A T2063Nfs*36 indicates a shift in the reading frame starting at amino acid 2063 and terminating 36 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T2063Nfs*36 has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2019).
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). Due to the loss of all known functional domains (UniProt.org), T294Pfs*69 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 truncation mutations downstream of V1561 (PMID: 26069190, PMID: 29736026), V1561fs is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of W1545 (PMID: 26069190, PMID: 29736026), W1545* is predicted to lead to a loss of Arid1a protein function.
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 truncation mutations downstream of W1670 (PMID: 26069190, PMID: 29736026), W1670* is predicted to lead to a loss of Arid1a protein function.
wild-type none no effect Wild-type ARID1A indicates that no mutation has been detected within the ARID1A gene.
Y2076* nonsense unknown ARID1A Y2076* results in a premature truncation of the Arid1a protein at amino acid 2076 of 2285 (UniProt.org). Y2076* has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
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, Dec 2019).
Y2254* nonsense loss of function - predicted ARID1A Y2254* results in a premature truncation of the Arid1a protein at amino acid 2254 of 2285 (UniProt.org). Y2254* results in the loss of interaction with Smarca4, Smarcc1 and Smarcd1 in cell culture (PMID: 30343899), and therefore, is predicted to lead to a loss of Arid1a protein function.
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).
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, because other truncation mutations downstream of Y551 are inactivating (PMID: 26069190), Y551Tfs*68 is predicted to lead to a loss of Arid1a protein function.
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). Due to the loss of all known functional domains (UniProt.org), Y592* is predicted to lead to a loss of Arid1a protein function.