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Gene | ARID1A |
Variant | G2087E |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A G2087E lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087E results in a reduction in protein expression and scaffolding ability (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A G2087E |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780158G>A |
cDNA | c.6260G>A |
Protein | p.G2087E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26780158G>A | c.6260G>A | p.G2087E | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780158G>A | c.6260G>A | p.G2087E | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780158G>A | c.6260G>A | p.G2087E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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