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Gene | ARID1A |
Variant | P1048S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A P1048S lies within the ARID domain of the Arid1a protein (UniProt.org). P1048S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A P1048S |
Transcript | NM_006015.6 |
gDNA | chr1:g.26767943C>T |
cDNA | c.3142C>T |
Protein | p.P1048S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |