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Gene | MSH6 |
Variant | T1085fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 T1085fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1085 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). T1085fs has been identified in sequencing studies (PMID: 23417712, PMID: 31069156, PMID: 35122027), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 T1085fs |
Transcript | NM_000179.3 |
gDNA | chr2:g.(47803499_47803500) |
cDNA | c.(3253_3252) |
Protein | p.T1085fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406808.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 T1085fs | unknown |