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Gene | ARID1A |
Variant | N983del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | 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, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A N983del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26766527_26766529delCAA |
cDNA | c.2949_2951delCAA |
Protein | p.N983del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.4 | chr1:g.26766527_26766529delCAA | c.2949_2951delCAA | p.N983del | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26766527_26766529delCAA | c.2949_2951delCAA | p.N983del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A N983del | unknown |