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Gene | ARID1A |
Variant | R1262H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A R1262H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1262H has been identified in sequencing studies (PMID: 30181556, PMID: 36249907), 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 R1262H |
Transcript | NM_006015.6 |
gDNA | chr1:g.26773415G>A |
cDNA | c.3785G>A |
Protein | p.R1262H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26773415G>A | c.3785G>A | p.R1262H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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