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Gene | ARID1A |
Variant | G1848W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A G1848W lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1848W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A G1848W |
Transcript | NM_006015.6 |
gDNA | chr1:g.26779440G>T |
cDNA | c.5542G>T |
Protein | p.G1848W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26779440G>T | c.5542G>T | p.G1848W | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26779440G>T | c.5542G>T | p.G1848W | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26779440G>T | c.5542G>T | p.G1848W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A G1848W | unknown |