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 | P726fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A P726fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 726 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P726fs has not been characterized, however, due to the effects of other truncation mutations downstream of P726 (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 P726fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26761397_26761398) |
cDNA | c.(2176_2175) |
Protein | p.P726fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.3 | chr1:g.(26761397_26761398) | c.(2176_2175) | p.P726fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26761397_26761398) | c.(2176_2175) | p.P726fs | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.(26761397_26761398) | c.(2176_2175) | p.P726fs | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.(26761397_26761398) | c.(2176_2175) | p.P726fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A P726fs | loss of function - predicted | EZH2 inhibitor |