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Gene | ARID1B |
Variant | E1746A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1B E1746A (corresponding to E1733B in the canonical isoform) does not lie within any known functional domains of the Arid1b protein (UniProt.org). E1746A has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1b protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1B mutant ARID1B E1746A |
Transcript | NM_017519.2 |
gDNA | chr6:g.157206417A>C |
cDNA | c.5237A>C |
Protein | p.E1746A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017011106 | chr6:g.157206336A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
XM_047419152.1 | chr6:g.157206348A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
NM_017519 | chr6:g.157206417A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
NM_020732 | chr6:g.157206378A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
NM_020732.3 | chr6:g.157206378A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
XM_017011106.2 | chr6:g.157206336A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
NM_017519.2 | chr6:g.157206417A>C | c.5237A>C | p.E1746A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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