MSH6 I1109fs - Gene Variant Detail

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Gene MSH6
Variant I1109fs
Impact List frameshift
Protein Effect loss of function - predicted
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) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), and is therefore predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 I1109fs

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Transcript NM_000179.3
gDNA chr2:g.(47803571_47803572)
cDNA c.(3325_3324)
Protein p.I1109fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_011532798 chr2:g.(47804978_47804979) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001281492 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.(47804978_47804979) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.(47806271_47806272) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47803571_47803572) c.(3325_3324) p.I1109fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References