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Gene | MSH6 |
Variant | F1088Sfs*2 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 F1088Sfs*2 indicates a shift in the reading frame starting at amino acid 1088 and terminating 2 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). F1088Sfs*2 has been identified in the scientific literature (PMID: 32923878, PMID: 31857677, PMID: 30877237), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 F1088fs MSH6 F1088Sfs*2 |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803510delT |
cDNA | c.3263delT |
Protein | p.F1088Sfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179.2 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47803510delT | c.3263delT | p.F1088Sfs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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