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Gene | ARID1B |
Variant | G1811Vfs*27 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1B G1811Vfs*27 indicates a shift in the reading frame starting at amino acid 1811 and terminating 27 residues downstream causing a premature truncation of the 2236 amino acid Arid1b protein (UniProt.org). G1811Vfs*27 has not been characterized in the scientific literature and therefore, its effect on Arid1b protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1B mutant ARID1B G1811Vfs*27 |
Transcript | NM_017519.2 |
gDNA | chr6:g.157206612delG |
cDNA | c.5432delG |
Protein | p.G1811Vfs*27 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047419135.1 | chr6:g.(157206173_157206256) | c.(5431_5514) | p.G1811Vfs*27 | RefSeq | GRCh38/hg38 |
NM_017519.2 | chr6:g.157206612delG | c.5432delG | p.G1811Vfs*27 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1B G1811Vfs*27 | unknown |