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 | S664* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A S664* results in a premature truncation of the Arid1a protein at amino acid 664 of 2285 (UniProt.org). S664* has not been characterized, however, due to the effects of other truncation mutations downstream of S664 (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 S664* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26760926C>A |
cDNA | c.1991C>A |
Protein | p.S664* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26760926C>A | c.1991C>A | p.S664* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|