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Gene Symbol | ARID2 | ||||||||||
Synonyms | BAF200 | CSS6 | p200 | SMARCF3 | ZIPZAP | ||||||||||
Gene Description | ARID2, AT-rich interaction domain 2, is a member of the PBaF subunit (PMID: 32303701) of the SWI/SNF chromatin remodeling complex and is involved in cell-cycle activation (PMID: 29072391). Arid2 loss of function has been identified in hepatoceullar carcinoma (PMID: 22095441, PMID: 28238438), NSCLC (PMID: 23047306), papillary renal cell carcinoma (PMID: 25790038), oral squamous cell carcinoma (PMID: 29072391), urothelial carcinoma, and melanoma (PMID: 32303701). | ||||||||||
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
---|---|---|---|---|
A205T | missense | unknown | ARID2 A205T does not lie within any known functional domains of the Arid2 protein (UniProt.org). A205T has been identified in sequencing studies (PMID: 25790038), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
ARID2 - ALK | fusion | unknown | ARID2-ALK results from the fusion of ARID2 and ALK (PMID: 35144623). ARID2-ALK has been identified in lung adenocarcinoma (PMID: 35144623), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, May 2024). | |
D1688H | missense | unknown | ARID2 D1688H does not lie within any known functional domains of the Arid2 protein (UniProt.org). D1688H has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jul 2024). | |
D248* | nonsense | loss of function - predicted | ARID2 D248* results in a premature truncation of the Arid2 protein at amino acid 248 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), D248* is predicted to lead to a loss of Arid2 protein function. | |
del | deletion | loss of function | ARID2 del indicates a deletion of the ARID2 gene. | |
E1511K | missense | unknown | ARID2 E1511K does not lie within any known functional domains of the Arid2 protein (UniProt.org). E1511K has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
E1656K | missense | unknown | ARID2 E1656K lies within the C2H2-type zinc finger domain of the Arid2 protein (UniProt.org). E1656K has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
E267* | nonsense | loss of function - predicted | ARID2 E267* results in a premature truncation of the Arid2 protein at amino acid 267 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), E267* is predicted to lead to a loss of Arid2 protein function. | |
E75* | nonsense | loss of function - predicted | ARID2 E75* results in a premature truncation of the Arid2 protein at amino acid 75 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), E75* is predicted to lead to a loss of Arid2 protein function. | |
G1281A | missense | unknown | ARID2 G1281A does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1281A has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
G1281W | missense | unknown | ARID2 G1281W does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1281W has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
G1425S | missense | unknown | ARID2 G1425S does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1425S has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
G1605fs | frameshift | loss of function - predicted | ARID2 G1605fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 1605 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), G1605fs is predicted to lead to a loss of Arid2 protein function. | |
G590R | missense | unknown | ARID2 G590R lies within the RFX-type winged-helix DNA-binding domain of the Arid2 protein (UniProt.org). G590R has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
H1017Y | missense | unknown | ARID2 H1017Y does not lie within any known functional domains of the Arid2 protein (UniProt.org). H1017Y has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
H1495fs | frameshift | loss of function - predicted | ARID2 H1495fs results in a change in the amino acid sequence of the Arid2 protein beginning at 1495 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), H1495fs is predicted to lead to a loss of Arid2 protein function. | |
inact mut | unknown | loss of function | ARID2 inact mut indicates that this variant results in a loss of function of the Arid2 protein. However, the specific amino acid change has not been identified. | |
K581* | nonsense | loss of function - predicted | ARID2 K581* results in a premature truncation of the Arid2 protein at amino acid 581 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), K581* is predicted to lead to a loss of Arid2 protein function. | |
L1423fs | frameshift | loss of function - predicted | ARID2 L1423fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 1423 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), L1423fs is predicted to lead to a loss of Arid2 protein function. | |
L57* | nonsense | loss of function - predicted | ARID2 L57* results in a premature truncation of the Arid2 protein at amino acid 57 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), L57* is predicted to lead to a loss of Arid2 protein function. | |
M1346V | missense | unknown | ARID2 M1346V does not lie within any known functional domains of the Arid2 protein (UniProt.org). M1346V has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
mutant | unknown | unknown | ARID2 mutant indicates an unspecified mutation in the ARID2 gene. | |
N67fs | frameshift | loss of function - predicted | ARID2 N67fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 67 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), N67fs is predicted to lead to a loss of Arid2 protein function. | |
P346L | missense | unknown | ARID2 P346L does not lie within any known functional domains of the Arid2 protein (UniProt.org). P346L has been identified in sequencing studies (PMID: 25790038), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
Q1016H | missense | unknown | ARID2 Q1016H does not lie within any known functional domains of the Arid2 protein (UniProt.org). Q1016H has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
Q819* | nonsense | loss of function - predicted | ARID2 Q819* results in a premature truncation of the Arid2 protein at amino acid 819 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), Q819* is predicted to lead to a loss of Arid2 protein function. | |
R1273* | nonsense | loss of function | ARID2 R1273* results in a premature truncation of the Arid2 protein at amino acid 1273 of 1835 (UniProt.org). R1273* fails to repress Snail, as indicated by increased expression and promoter activity of Snail, and results in failure to interact with Dnmt1, decreased DNMT1-mediated promoter methylation of Snail, and decreased inhibition of migration and invasion in cultured cells (PMID: 32071245). | |
R1769Q | missense | unknown | ARID2 R1769Q does not lie within any known functional domains of the Arid2 protein (UniProt.org). R1769Q has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Mar 2024). | |
R314C | missense | unknown | ARID2 R314C lies within the LXXLL motif of the Arid2 protein (UniProt.org). R314C has been identified in sequencing studies (PMID: 26950094, PMID: 27149842, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
R314S | missense | unknown | ARID2 R314S lies within the LXXLL motif of the Arid2 protein (UniProt.org). R314S has been identified in sequencing studies (PMID: 33556149), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
S1157* | nonsense | loss of function - predicted | ARID2 S1157* results in a premature truncation of the Arid2 protein at amino acid 1157 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S1157* is predicted to lead to a loss of Arid2 protein function. | |
S1327* | nonsense | loss of function - predicted | ARID2 S1327* results in a premature truncation of the Arid2 protein at amino acid 1327 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S1327* is predicted to lead to a loss of Arid2 protein function. | |
S218Pfs*74 | frameshift | loss of function - predicted | ARID2 S218Pfs*74 indicates a shift in the reading frame starting at amino acid 218 and terminating 74 residues downstream causing a premature truncation of the 1835 amino acid Arid2 protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S218Pfs*74 is predicted to lead to a loss of Arid2 protein function. | |
S297F | missense | unknown | ARID2 S297F does not lie within any known functional domains of the Arid2 protein (UniProt.org). S297F has been identified in sequencing studies (PMID: 26744134, PMID: 26343386, PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). | |
S297P | missense | unknown | ARID2 S297P does not lie within any known functional domains of the Arid2 protein (UniProt.org). S297P has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
S319F | missense | unknown | ARID2 S319F does not lie within any known functional domains of the Arid2 protein (UniProt.org). S319F has been identified in sequencing studies (PMID: 30531871), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). | |
S635* | nonsense | loss of function - predicted | ARID2 S635* results in a premature truncation of the Arid2 protein at amino acid 635 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S635* is predicted to lead to a loss of Arid2 protein function. | |
W266* | nonsense | loss of function - predicted | ARID2 W266* results in a premature truncation of the Arid2 protein at amino acid 266 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), W266* is predicted to lead to a loss of Arid2 protein function. | |
wild-type | none | no effect | Wild-type ARID2 indicates that no mutation has been detected within the ARID2 gene. |