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Gene | ARID1A |
Variant | R1335L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A R1335L does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1335L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A R1335L |
Transcript | NM_006015.6 |
gDNA | chr1:g.26773717G>T |
cDNA | c.4004G>T |
Protein | p.R1335L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.4 | chr1:g.26773717G>T | c.4004G>T | p.R1335L | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26773717G>T | c.4004G>T | p.R1335L | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26773717G>T | c.4004G>T | p.R1335L | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26773717G>T | c.4004G>T | p.R1335L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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