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Gene | ARID1A |
Variant | L1713P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A L1713P lies within an LXXLL motif of the Arid1a protein (UniProt.org). L1713P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A L1713P |
Transcript | NM_006015.6 |
gDNA | chr1:g.26779036T>C |
cDNA | c.5138T>C |
Protein | p.L1713P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26779036T>C | c.5138T>C | p.L1713P | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26779036T>C | c.5138T>C | p.L1713P | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26779036T>C | c.5138T>C | p.L1713P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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