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Gene | ARID2 |
Variant | E1511K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID2 E1511K does not lie within any known functional domains of the Arid2 protein (UniProt.org). E1511K has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 E1511K |
Transcript | NM_152641.4 |
gDNA | chr12:g.45852654G>A |
cDNA | c.4531G>A |
Protein | p.E1511K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047428489.1 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.45852654G>A | c.4531G>A | p.E1511K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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