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 | P478del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A P478del results in the deletion of an amino acid of the Arid1a protein at amino acid 478 (UniProt.org). P478del has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A P478del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26731234_26731236delCTC |
cDNA | c.1433_1435delCTC |
Protein | p.P478delP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478delP | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478del | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478delP | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|