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Gene | ARID1A |
Variant | R1223C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A R1223C does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223C has been identified in sequencing studies (PMID: 22810696, PMID: 28292439, PMID: 30675285), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A R1223C |
Transcript | NM_006015.6 |
gDNA | chr1:g.26772939C>T |
cDNA | c.3667C>T |
Protein | p.R1223C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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