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Gene | ARID2 |
Variant | H1495fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID2 H1495fs results in a change in the amino acid sequence of the Arid2 protein beginning at 1495 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), H1495fs is predicted to lead to a loss of Arid2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 inact mut ARID2 H1495fs |
Transcript | NM_152641.4 |
gDNA | chr12:g.(45852605_45852606) |
cDNA | c.(4483_4482) |
Protein | p.H1495fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006719272 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
NM_152641 | chr12:g.(45852605_45852606) | c.(4483_4482) | p.H1495fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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