Gene Detail

Filtering

Case insensitive filtering will display rows if any text in any cell matches the filter term
Use simple literal full or partial string matches
Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
Click on any column header arrows to sort by that column
Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Variant	Impact	Protein Effect	Variant Description
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 2024).
A1522Pfs*5	frameshift	loss of function - predicted	ARID1A A1522Pfs5 indicates a shift in the reading frame starting at amino acid 1522 and terminating five residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A1522Pfs5 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.
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 2024).
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.
A1682fs	frameshift	loss of function - predicted	ARID1A A1682fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1682 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). A1682fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1682 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
A1978Sfs*36	frameshift	loss of function - predicted	ARID1A A1978Sfs36 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). A1978Sfs36 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.
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.
A2205T	missense	unknown	ARID1A A2205T lies within the GR binding domain of the Arid1a protein (PMID: 23208470). A2205T has been identified in sequencing studies (PMID: 32520976), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
A339Gfs*61	frameshift	loss of function - predicted	ARID1A A339Gfs61 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). A339Gfs61 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.
A339Lfs*24	frameshift	loss of function - predicted	ARID1A A339Lfs24 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). A339Lfs24 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.
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 2024).
A345_A349del	deletion	loss of function	ARID1A A345_A349del results in the deletion of five amino acids of the Arid1a protein from amino acid 345 to 349 (UniProt.org). A345_A349del (reported as A344_A348del) leads to a loss of Arid1a protein function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632).
A35Gfs*76	frameshift	loss of function - predicted	ARID1A A35Gfs76 indicates a shift in the reading frame starting at amino acid 35 and terminating 76 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A35Gfs76 has not been characterized however, due to the effects of other truncation mutations downstream of A35 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
amp	none	no effect	ARID1A amplification indicates an increased number of copies of the ARID1A gene. However, the mechanism causing the increase is unspecified.
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 2024).
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.
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.
D1850Gfs*4	frameshift	loss of function - predicted	ARID1A D1850Gfs4 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). D1850Gfs4 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.
D1850Tfs*33	frameshift	loss of function - predicted	ARID1A D1850Tfs33 indicates a shift in the reading frame starting at amino acid 1850 and terminating 33 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). D1850Tfs33 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.
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, Feb 2024).
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, Feb 2024).
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 2024).
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.
E1006*	nonsense	loss of function - predicted	ARID1A E1006* results in a premature truncation of the Arid1a protein at amino acid 1006 of 2285 (UniProt.org). E1006* has not been characterized, however, due to the effects of other truncation mutations downstream of E1006 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
E1019Q	missense	unknown	ARID1A E1019Q lies within the ARID domain of the Arid1a protein (UniProt.org). E1019Q has been identified in sequencing studies (PMID: 31751681), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2024).
E1387*	nonsense	loss of function - predicted	ARID1A E1387* results in a premature truncation of the Arid1a protein at amino acid 1387 of 2285 (UniProt.org). E1387* has not been characterized, however, due to the effects of other truncation mutations downstream of E1387 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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.
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.
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.
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.
E1777*	nonsense	loss of function - predicted	ARID1A E1777* results in a premature truncation of the Arid1a protein at amino acid 1777 of 2285 (UniProt.org). E1777* has not been characterized, however, due to the effects of other truncation mutations downstream of E1777 (PMID: 29736026), 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 the scientific literature (PMID: 31745173, PMID: 27203738, PMID: 29136510), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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.
E1799fs	frameshift	loss of function - predicted	ARID1A E1799fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1799 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). E1799fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1799 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
E1964*	nonsense	loss of function - predicted	ARID1A E1964* results in a premature truncation of the Arid1a protein at amino acid 1964 of 2285 (UniProt.org). E1964* has not been characterized, however, due to the effects of other truncation mutations downstream of E1964 (PMID: 29736026), 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 been identified in sequencing studies (PMID: 26503331), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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 2024).
E2058*	nonsense	unknown	ARID1A E2058* results in a premature truncation of the Arid1a protein at amino acid 2058 of 2285 (UniProt.org). E2058* 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.
E654Gfs*9	frameshift	loss of function - predicted	ARID1A E654Gfs9 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). E654Gfs9 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.
E896*	nonsense	loss of function - predicted	ARID1A E896* results in a premature truncation of the Arid1a protein at amino acid 896 of 2285 (UniProt.org). E896* has not been characterized, however, due to the effects of other truncation mutations downstream of E896 (PMID: 29736026), 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). 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.
F1118fs	frameshift	loss of function - predicted	ARID1A F1118fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1118 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). F1118fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1118 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
F1823fs	frameshift	loss of function - predicted	ARID1A F1823fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1823 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). F1823fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1823 (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.
F2141Sfs*59	frameshift	loss of function - predicted	ARID1A F2141Sfs59 indicates a shift in the reading frame starting at amino acid 2141 and terminating 59 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). F2141Sfs59 results in a loss of protein expression and scaffolding ability (PMID: 34386776), and therefore, 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, Apr 2024).
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.
G1295fs	frameshift	loss of function - predicted	ARID1A G1295fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1295 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1295fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1295 (PMID: 29736026), 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 and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024).
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.
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 2024).
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.
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 2024).
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, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024).
G2087E	missense	loss of function - predicted	ARID1A G2087E lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087E results in a reduction in protein expression and scaffolding ability (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
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 2024).
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.
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.
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.
G276Efs*87	frameshift	loss of function - predicted	ARID1A G276Efs87 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). G276Efs87 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.
G277fs	frameshift	loss of function - predicted	ARID1A G277fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 277 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G277fs has not been characterized, however, due to the effects of other truncation mutations downstream of G277 (PMID: 26069190, 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.
G284fs	frameshift	loss of function - predicted	ARID1A G284fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 284 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G284fs has not been characterized, however, due to the effects of other truncation mutations downstream of G284 (PMID: 29736026, PMID: 26069190), 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, Dec 2023).
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.
G671Efs*71	frameshift	loss of function - predicted	ARID1A G671Efs71 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). G671Efs71 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.
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 2024).
G83Wfs*28	frameshift	loss of function - predicted	ARID1A G83Wfs28 indicates a shift in the reading frame starting at amino acid 83 and terminating 28 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). G83Wfs28 has not been characterized, however, due to the effects of other truncation mutations downstream of G83 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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.
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 2024).
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.
I1954Nfs*9	frameshift	loss of function - predicted	ARID1A I1954Nfs9 indicates a shift in the reading frame starting at amino acid 1954 and terminating 9 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). I1954Nfs9 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.
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, Feb 2024).
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, Feb 2024).
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, Apr 2024).
I832fs	frameshift	loss of function - predicted	ARID1A I832fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 832 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). I832fs has not been characterized, however, due to the effects of other truncation mutations downstream of I832 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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 other truncation mutations downstream of K1071 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
K1072Nfs*21	frameshift	loss of function - predicted	ARID1A K1072Nfs21 indicates a shift in the reading frame starting at amino acid 1072 and terminating 21 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). K1072Nfs21 has not been characterized, however, due to the effects of other truncation mutations downstream of K1072 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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, Feb 2024).
K1953Rfs*3	frameshift	loss of function - predicted	ARID1A K1953Rfs3 indicates a shift in the reading frame starting at amino acid 1953 and terminating three residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). K1953Rfs3 has not been characterized, however, due to the effects of other truncation mutations downstream of K1953 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, Jan 2024).
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.
L1713P	missense	unknown	ARID1A L1713P lies within an 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, Feb 2024).
L1866fs	frameshift	loss of function - predicted	ARID1A L1866fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1866 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L1866fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1866 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
L2009del	deletion	loss of function	ARID1A L2009del results in the deletion of one amino acid in the GR binding domain of the Arid1a protein (PMID: 23208470). L2009del (reported as 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).
L2117fs	frameshift	unknown	ARID1A L2117fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2117 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L2117fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024).
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, Dec 2023).
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.
L657Pfs*81	frameshift	loss of function - predicted	ARID1A L657Pfs81 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). L657Pfs81 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.
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.
loss	unknown	loss of function	ARID1A loss indicates loss of the ARID1A gene, mRNA, and protein.
M1154fs	frameshift	loss of function - predicted	ARID1A M1154fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1154 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1154fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1154 (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.
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, Feb 2024).
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.
M1532fs	frameshift	loss of function - predicted	ARID1A M1532fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1532 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1532fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1532 (PMID: 29736026), 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, Feb 2024).
M923Hfs*13	frameshift	loss of function - predicted	ARID1A M923Hfs13 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). M923Hfs13 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.
mutant	unknown	unknown	ARID1A mutant indicates an unspecified mutation in the ARID1A gene.
N1192fs	frameshift	loss of function - predicted	ARID1A N1192fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1192 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). N1192fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1192 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
N1270Mfs*19	frameshift	loss of function - predicted	ARID1A N1270Mfs19 indicates a shift in the reading frame starting at amino acid 1270 and terminating 19 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). N1270Mfs19 has not been characterized, however, due to the effects of other truncation mutations downstream of N1270 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, Feb 2024).
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, Feb 2024).
N2109Ffs*37	frameshift	unknown	ARID1A N2109Ffs37 indicates a shift in the reading frame starting at amino acid 2109 and terminating 37 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). N2109Ffs37 has been identified in sequencing studies (PMID: 32546937), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2024).
N472S	missense	unknown	ARID1A N472S does not lie within any known functional domains of the Arid1a protein (UniProt.org). N472S has been identified in the scientific literature (PMID: 36245225, PMID: 29078173), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2023).
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.
N983del	deletion	unknown	ARID1A N983del results in the deletion of an amino acid of the Arid1a protein at amino acid 983 (UniProt.org). N983del 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 2024).
negative	unknown	loss of function	ARID1A negative indicates a lack of expression of the ARID1A 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, Feb 2024).
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, Feb 2024).
P1326Rfs*155	frameshift	loss of function - predicted	ARID1A P1326Rfs155 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). P1326Rfs155 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.
P1326_Q1327del	deletion	unknown	ARID1A P1326_Q1327del results in the deletion of two amino acids of 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, Feb 2024).
P135Lfs*96	frameshift	loss of function - predicted	ARID1A P135Lfs96 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). P135Lfs96 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.
P158S	missense	unknown	ARID1A P158S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P158S has been identified in sequencing studies (PMID: 24651015, PMID: 30761385), but not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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, Feb 2024).
P1867fs	frameshift	loss of function - predicted	ARID1A P1867fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1867 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P1867fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1867 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
P1898Hfs*25	frameshift	loss of function - predicted	ARID1A P1898Hfs25 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). P1898Hfs25 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.
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, Feb 2024).
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, Feb 2024).
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.
P224Rfs*8	frameshift	loss of function - predicted	ARID1A P224Rfs8 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). P224Rfs8 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.
P478del	deletion	unknown	ARID1A P478del results in the deletion of an 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, Feb 2024).
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, Apr 2024).
P65Rfs*36	frameshift	loss of function - predicted	ARID1A P65Rfs36 indicates a shift in the reading frame starting at amino acid 65 and terminating 36 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P65Rfs36 has not been characterized however, due to the effects of other truncation mutations downstream of P65 (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.
P726fs	frameshift	loss of function - predicted	ARID1A P726fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 726 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P726fs has not been characterized, however, due to the effects of other truncation mutations downstream of P726 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, Feb 2024).
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, Feb 2024).
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, Feb 2024).
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, Feb 2024).
P886Tfs*49	frameshift	loss of function - predicted	ARID1A P886Tfs49 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). P886Tfs49 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.
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, Feb 2024).
P94Lfs*7	frameshift	loss of function - predicted	ARID1A P94Lfs7 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). P94Lfs7 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.
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.
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.
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.
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.
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.
Q1200*	nonsense	loss of function - predicted	ARID1A Q1200* results in a premature truncation of the Arid1a protein at amino acid 1200 of 2285 (UniProt.org). Q1200* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1200 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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.
Q1327Afs*11	frameshift	loss of function - predicted	ARID1A Q1327Afs11 indicates a shift in the reading frame starting at amino acid 1327 and terminating 11 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q1327Afs11 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1327 (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.
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: 24265153, PMID: 34680390, PMID: 35739266), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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). 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.
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.
Q1397fs	frameshift	loss of function - predicted	ARID1A Q1397fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1397 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1397fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1397 (PMID: 29736026), 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). 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.
Q1403*	nonsense	loss of function - predicted	ARID1A Q1403* results in a premature truncation of the Arid1a protein at amino acid 1403 of 2285 (UniProt.org). Q1403* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1403 (PMID: 29736026), 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). 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.
Q1454*	nonsense	loss of function - predicted	ARID1A Q1454* results in a premature truncation of the Arid1a protein at amino acid 1454 of 2285 (UniProt.org). Q1454* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1454 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q1474*	nonsense	loss of function - predicted	ARID1A Q1474* results in a premature truncation of the Arid1a protein at amino acid 1474 of 2285 (UniProt.org). Q1474* has not been characterized, however, due to the effects of other truncation mutations downstream of R1474 (PMID: 29736026), 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 other truncation mutations downstream of Q1479 (PMID: 29736026), 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). 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.
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.
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.
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.
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, Feb 2024).
Q1519Pfs*13	frameshift	loss of function - predicted	ARID1A Q1519Pfs13 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). Q1519Pfs13 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.
Q1519Rfs*8	frameshift	loss of function - predicted	ARID1A Q1519Rfs8 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). Q1519Rfs8 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.
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.
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.
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.
Q1835*	nonsense	loss of function - predicted	ARID1A Q1835* results in a premature truncation of the Arid1a protein at amino acid 1835 of 2285 (UniProt.org). Q1835* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1835 (PMID: 29736026), 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 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.
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, Feb 2024).
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.
Q199*	nonsense	loss of function - predicted	ARID1A Q199* results in a premature truncation of the Arid1a protein at amino acid 199 of 2285 (UniProt.org). Q199* has not been characterized, however, due to the effects of other truncation mutations downstream of Q199 (PMID: 29736026, PMID: 26069190), 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.
Q2070*	nonsense	unknown	ARID1A Q2070* results in a premature truncation of the Arid1a protein at amino acid 2070 of 2285 (UniProt.org). Q2070* has been identified in the scientific literature (PMID: 32572156, PMID: 34454112), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
Q2115*	nonsense	loss of function - predicted	ARID1A Q2115* results in a premature truncation of the Arid1a protein at amino acid 2115 of 2285 (UniProt.org). Q2115* results in decreased Arid1a protein expression and decreased scaffolding ability in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
Q2176fs	frameshift	unknown	ARID1A Q2176fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2176 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q2176fs has been identified in the scientific literature (PMID: 32868822, PMID: 37465112, PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2024).
Q2188*	nonsense	unknown	ARID1A Q2188* results in a premature truncation of the Arid1a protein at amino acid 2188 of 2285 (UniProt.org). Q2188* has been identified in sequencing studies (PMID: 22722193), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Oct 2023).
Q2209*	nonsense	unknown	ARID1A Q2209* results in a premature truncation of the Arid1a protein at amino acid 2209 of 2285 (UniProt.org). Q2209* has been identified in sequencing studies (PMID: 28945843, PMID: 35885948), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
Q2209Sfs*22	frameshift	unknown	ARID1A Q2209Sfs22 indicates a shift in the reading frame starting at amino acid 2209 and terminating 22 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q2209Sfs22 has been identified in the scientific literature (PMID: 37306706), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2024).
Q2210*	nonsense	unknown	ARID1A Q2210* results in a premature truncation of the Arid1a protein at amino acid 2210 of 2285 (UniProt.org). Q2210* has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2023).
Q268*	nonsense	loss of function - predicted	ARID1A Q268* results in a premature truncation of the Arid1a protein at amino acid 268 of 2285 (UniProt.org). Q268* has not been characterized however, due to the effects of other truncation mutations downstream of Q268 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q288Pfs*112	frameshift	loss of function - predicted	ARID1A Q288Pfs112 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). Q288Pfs112 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.
Q321Rfs*42	frameshift	loss of function - predicted	ARID1A Q321Rfs42 indicates a shift in the reading frame starting at amino acid 321 and terminating 42 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q321Rfs42 has not been characterized, however, due to the effects of other truncation mutations downstream of Q321 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q372*	nonsense	loss of function - predicted	ARID1A Q372* results in a premature truncation of the Arid1a protein at amino acid 372 of 2285 (UniProt.org). Q372* has not been characterized, however, due to the effects of other truncation mutations downstream of Q372 (PMID: 29736026, PMID: 26069190), is predicted to lead to a loss of Arid1a protein function.
Q372Afs*28	frameshift	loss of function - predicted	ARID1A Q372Afs28 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). Q372Afs28 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.
Q372fs	frameshift	loss of function - predicted	ARID1A Q372fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 372 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q372fs 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.
Q372Sfs*19	frameshift	loss of function - predicted	ARID1A Q372Sfs19 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). Q372Sfs19 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.
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.
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
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.
Q405*	nonsense	loss of function - predicted	ARID1A Q405* results in a premature truncation of the Arid1a protein at amino acid 405 of 2285 (UniProt.org). Q405* has not been characterized, however, due to the effects of other truncation mutations downstream of Q405 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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).
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.
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.
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.
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, Feb 2024).
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.
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 not been 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.
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.
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.
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, Feb 2024).
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 not been 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.
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.
Q546Rfs*73	frameshift	loss of function - predicted	ARID1A Q546Rfs73 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). Q546Rfs73 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.
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.
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, Feb 2024).
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.
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.
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.
Q586*	nonsense	loss of function - predicted	ARID1A Q586* results in a premature truncation of the Arid1a protein at amino acid 586 of 2285 (UniProt.org). Q586* has not been characterized, however, due to the effects of other truncation mutations downstream of Q586 (PMID: 29736026), 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, Jan 2024).
Q611*	nonsense	loss of function - predicted	ARID1A Q611* results in a premature truncation of the Arid1a protein at amino acid 611 of 2285 (UniProt.org). Q611* 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.
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, Feb 2024).
Q611Rfs*11	frameshift	loss of function - predicted	ARID1A Q611Rfs11 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). Q611Rfs11 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.
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.
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.
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.
Q758Rfs*75	frameshift	loss of function - predicted	ARID1A Q758Rfs75 indicates a shift in the reading frame starting at amino acid 758 and terminating 75 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T897Lfs22 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.
Q766Pfs*51	frameshift	loss of function - predicted	ARID1A Q766Pfs51 indicates a shift in the reading frame starting at amino acid 766 and terminating 51 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q766Pfs51 has not been characterized, however, due to the effects of other truncation mutations downstream of Q766 (PMID: 29736026), 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). 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.
Q802Vfs*32	frameshift	loss of function - predicted	ARID1A Q802Vfs32 indicates a shift in the reading frame starting at amino acid 802 and terminating 32 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q802Vfs32 has not been characterized, however, due to the effects of other truncation mutations downstream of Q802 (PMID: 29736026), 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, Feb 2024).
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.
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.
Q920fs	frameshift	loss of function - predicted	ARID1A Q920fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 920 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q920fs 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.
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.
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, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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, PMID: 30675285), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2024).
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 2024).
R1262H	missense	unknown	ARID1A R1262H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1262H has been identified in sequencing studies (PMID: 30181556, PMID: 36249907), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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.
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.
R1335L	missense	unknown	ARID1A R1335L does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1335L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2023).
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.
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.
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.
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 2024).
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.
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.
R1721P	missense	unknown	ARID1A R1721P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1721P 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, Feb 2024).
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.
R1906P	missense	unknown	ARID1A R1906P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906P has been identified in sequencing studies (PMID: 30412282), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
R1906Q	missense	unknown	ARID1A R1906Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906Q has been identified in the scientific literature (PMID: 26744134, PMID: 35328145), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024).
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.
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, Apr 2024).
R2143H	missense	unknown	ARID1A R2143H lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2143H 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, Feb 2024).
R2158*	nonsense	loss of function - predicted	ARID1A R2158* results in a premature truncation of the Arid1a protein at amino acid 2158 of 2285 (UniProt.org). R2158* results in a loss of protein expression and scaffolding ability (PMID: 34386776), and therefore, 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, Jan 2024).
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, Feb 2024).
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, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2023).
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.
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.
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.
R774Efs*55	frameshift	loss of function - predicted	ARID1A R774Efs55 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). R774Efs55 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.
S1000F	missense	unknown	ARID1A S1000F does not lie any known functional domains 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, Feb 2024).
S1000Y	missense	unknown	ARID1A S1000Y does not lie within any known functional domains 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, Feb 2024).
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, Feb 2024).
S1149*	nonsense	loss of function - predicted	ARID1A S1149* results in a premature truncation of the Arid1a protein at amino acid 1149 of 2285 (UniProt.org). S1149* has not been characterized, however, due to the effects of other truncation mutations downstream of S1149 (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.
S1184fs	frameshift	loss of function - predicted	ARID1A S1184fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1184 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S1184fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1184 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, Dec 2023).
S1197P	missense	unknown	ARID1A S1197P does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1197P has been identified in sequencing studies (PMID: 36921563), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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.
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.
S138*	nonsense	loss of function - predicted	ARID1A S138* results in a premature truncation of the Arid1a protein at amino acid 138 of 2285 (UniProt.org). S138* has not been characterized, however, due to the effects of other truncation mutations downstream of S138 (PMID: 29736026, PMID: 26069190), is predicted to lead to a loss of Arid1a protein function.
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.
S1707G	missense	unknown	ARID1A S1707G lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1707G has not been characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
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.
S1868fs	frameshift	loss of function - predicted	ARID1A S1868fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1868 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S1868fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1868 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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, Feb 2024).
S1985P	missense	unknown	ARID1A S1985P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1985P results in loss of protein expression in a patient sample (PMID: 20942669), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown.
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, Feb 2024).
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, Apr 2024).
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, Feb 2024).
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, Feb 2024).
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, Feb 2024).
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, PMID: 35069089), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
S258C	missense	unknown	ARID1A S258C does not lie within any known functional domains of the Arid1a protein (UniProt.org). S258C has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2023).
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.
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.
S366Afs*25	frameshift	loss of function - predicted	ARID1A S366Afs25 indicates a shift in the reading frame starting at amino acid 366 and terminating 25 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). S366Afs25 has not been characterized, however, due to the effects of other truncation mutations downstream of S366 (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.
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.
S621fs	frameshift	loss of function - predicted	ARID1A S621fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 621 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). S621fs has not been characterized, however, due to the effects of other truncation mutations downstream of S621 (PMID: 29736026), 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). 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.
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.
S711*	nonsense	loss of function - predicted	ARID1A S711* results in a premature truncation of the Arid1a protein at amino acid 711 of 2285 (UniProt.org). S711* has not been characterized, however, due to the effects of other truncation mutations downstream of S711 (PMID: 29736026), 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, Jan 2024).
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.
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 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.
S958Lfs*10	frameshift	loss of function - predicted	ARID1A S958Lfs10 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). S958Lfs10 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.
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.
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, Feb 2024).
T2063Nfs*36	frameshift	unknown	ARID1A T2063Nfs36 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). T2063Nfs36 has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024).
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, Apr 2024).
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.
T292Pfs*71	frameshift	loss of function - predicted	ARID1A T292Pfs71 indicates a shift in the reading frame starting at amino acid 292 and terminating 71 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T292Pfs71 has not been characterized, however, due to the effects of other truncation mutations downstream of T292 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
T294Pfs*69	frameshift	loss of function - predicted	ARID1A T294Pfs69 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). T294Pfs69 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.
T897Lfs*22	frameshift	loss of function - predicted	ARID1A T897Lfs22 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). T897Lfs22 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.
T979fs	frameshift	loss of function - predicted	ARID1A T979fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 979 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). T979fs has not been characterized, however, due to the effects of other truncation mutations downstream of T979 (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.
V1817I	missense	unknown	ARID1A V1817I lies within the GR binding domain of the Arid1a protein (PMID: 23208470). V1817I has been identified in sequencing studies (PMID: 29604063), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024).
V1982fs	frameshift	loss of function - predicted	ARID1A V1982fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1982 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). V1982fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1982 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.
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.
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.
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.
wild-type	none	no effect	Wild-type ARID1A indicates that no mutation has been detected within the ARID1A gene.
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.
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.
Y2031*	nonsense	unknown	ARID1A Y2031* results in a premature truncation of the Arid1a protein at amino acid 2031 of 2285 (UniProt.org). Y2031* 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.
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, Feb 2024).
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, Jan 2024).
Y2148*	nonsense	unknown	ARID1A Y2148* results in a premature truncation of the Arid1a protein at amino acid 2148 of 2285 (UniProt.org). Y2148* 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, Apr 2024).
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, PMID: 30851247), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2024).
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: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Y518*	nonsense	loss of function - predicted	ARID1A Y518* results in a premature truncation of the Arid1a protein at amino acid 518 of 2285 (UniProt.org). Y518* has not been characterized, however, due to the effects of other truncation mutations downstream of Y518 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Y551Lfs*72	frameshift	loss of function - predicted	ARID1A Y551Lfs72 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). Y551Lfs72 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.
Y551Tfs*68	frameshift	loss of function - predicted	ARID1A Y551Tfs68 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). Y551Tfs68 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.
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.
Y788*	nonsense	loss of function - predicted	ARID1A Y788* results in a premature truncation of the Arid1a protein at amino acid 788 of 2285 (UniProt.org). Y788* has not been characterized, however, due to the effects of other truncation mutations downstream of Y788 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
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.

Gene Detail

Contact

Filtering

Sorting