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Gene | MSH6 |
Variant | G1105Wfs*3 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 G1105Wfs*3 indicates a shift in the reading frame starting at amino acid 1105 and terminating 3 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). G1105Wfs*3 has been identified in the scientific literature (PMID: 28922847, PMID: 33840814, PMID: 31857677), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 G1105Wfs*3 |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803559dupT |
cDNA | c.3312dupT |
Protein | p.G1105Wfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803559dupT | c.3312dupT | p.G1105Wfs*3 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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