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Gene | MSH6 |
Variant | I1109fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 I1109fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1109 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1109fs (reported as I1109fs*3) is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 I1109fs |
Transcript | NM_000179.3 |
gDNA | chr2:g.(47803571_47803572) |
cDNA | c.(3325_3324) |
Protein | p.I1109fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |