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Gene | ARID2 |
Variant | E75* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID2 E75* results in a premature truncation of the Arid2 protein at amino acid 75 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), E75* is predicted to lead to a loss of Arid2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 inact mut ARID2 E75* |
Transcript | NM_152641.4 |
gDNA | chr12:g.45731253G>T |
cDNA | c.223G>T |
Protein | p.E75* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001347839.1 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
NM_152641 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
XM_006719272 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.45731253G>T | c.223G>T | p.E75* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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