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 | L657Pfs*81 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A L657Pfs*81 indicates a shift in the reading frame starting at amino acid 657 and terminating 81 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). L657Pfs*81 has not been characterized, however, due to the effects of other truncation mutations downstream of Q474 (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 L657Pfs*81 |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26760904_26761436) |
cDNA | c.(1969_2214) |
Protein | p.L657Pfs*81 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.(26760904_26761436) | c.(1969_2214) | p.L657Pfs*81 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|