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Gene | ARID1A |
Variant | Q2176fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | 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), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A Q2176fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26780423_26780424) |
cDNA | c.(6526_6525) |
Protein | p.Q2176fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.(26780423_26780424) | c.(6526_6525) | p.Q2176fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26780423_26780424) | c.(6526_6525) | p.Q2176fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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