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Gene | MSH6 |
Variant | E1196* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 E1196* results in a premature truncation of the Msh6 protein at amino acid 1196 of 1360 (UniProt.org). E1196* has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 E1196* |
Transcript | NM_000179.3 |
gDNA | chr2:g.47805647G>T |
cDNA | c.3586G>T |
Protein | p.E1196* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406800.1 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47805647G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47806317G>T | c.3586G>T | p.E1196* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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