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Gene | ARID2 |
Variant | L1423fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID2 L1423fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 1423 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), L1423fs is predicted to lead to a loss of Arid2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 inact mut ARID2 L1423fs |
Transcript | NM_152641.4 |
gDNA | chr12:g.(45852389_45852390) |
cDNA | c.(4267_4266) |
Protein | p.L1423fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047428489.1 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
XM_006719272 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
NM_152641 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.(45852389_45852390) | c.(4267_4266) | p.L1423fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID2 L1423fs | loss of function - predicted |