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Gene | ARID2 |
Variant | S218Pfs*74 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID2 S218Pfs*74 indicates a shift in the reading frame starting at amino acid 218 and terminating 74 residues downstream causing a premature truncation of the 1835 amino acid Arid2 protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S218Pfs*74 is predicted to lead to a loss of Arid2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 inact mut ARID2 S218Pfs*74 |
Transcript | NM_152641.4 |
gDNA | chr12:g.45821434delT |
cDNA | c.652delT |
Protein | p.S218Pfs*74 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_152641.4 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45821434delT | c.652delT | p.S218Pfs*74 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID2 S218Pfs*74 | loss of function - predicted |