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Gene | ARID1A |
Variant | K996N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A K996N does not lie within any known functional domains of the Arid1a protein (UniProt.org). K996N has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A K996N |
Transcript | NM_006015.6 |
gDNA | chr1:g.26766566G>C |
cDNA | c.2988G>C |
Protein | p.K996N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26766566G>C | c.2988G>C | p.K996N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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