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Gene | ARID1A |
Variant | Q2070* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A Q2070* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780106C>T |
cDNA | c.6208C>T |
Protein | p.Q2070* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26780106C>T | c.6208C>T | p.Q2070* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780106C>T | c.6208C>T | p.Q2070* | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26780106C>T | c.6208C>T | p.Q2070* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A Q2070* | unknown |