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Gene | ARID1A |
Variant | S2104F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A S2104F lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2104F has been identified in sequencing studies (PMID: 23525077), 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 S2104F |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780209C>T |
cDNA | c.6311C>T |
Protein | p.S2104F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26780209C>T | c.6311C>T | p.S2104F | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780209C>T | c.6311C>T | p.S2104F | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26780209C>T | c.6311C>T | p.S2104F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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