Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ARID1A |
Variant | Q802Vfs*32 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Q802Vfs*32 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). Q802Vfs*32 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. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q802Vfs*32 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26762302_26762303dupGT |
cDNA | c.2402_2403dupGT |
Protein | p.Q802Vfs*32 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.4 | chr1:g.26762302_26762303dupGT | c.2402_2403dupGT | p.Q802Vfs*32 | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26762302_26762303dupGT | c.2402_2403dupGT | p.Q802Vfs*32 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26762302_26762303dupGT | c.2402_2403dupGT | p.Q802Vfs*32 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26762302_26762303dupGT | c.2402_2403dupGT | p.Q802Vfs*32 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|