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Gene MSH6
Variant D1171fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 D1171fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1171 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). D1171fs (reported as D1171fs*5) 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 therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 D1171fs

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Transcript NM_000179.3
gDNA chr2:g.(47804981_47804982)
cDNA c.(3511_3510)
Protein p.D1171fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406807.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406799.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406806.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
MSH6 D1171fs loss of function - predicted