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Gene MSH6
Variant K234fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 K234fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 234 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). K234fs has not been characterized, however, due to the loss of several functional domains including the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 K234fs

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Transcript NM_000179.3
gDNA chr2:g.(47798682_47798683)
cDNA c.(700_699)
Protein p.K234fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47798682_47798683) c.(700_699) p.K234fs RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.(47798865_47798866) c.(700_699) p.K234fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MSH6 K234fs loss of function - predicted