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Gene MSH6
Variant I1283fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH6 I1283fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1283 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1283fs has been identified in the scientific literature (PMID: 34018286), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 I1283fs

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Transcript NM_000179.3
gDNA chr2:g.(47806496_47806497)
cDNA c.(3847_3846)
Protein p.I1283fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.(47806509_47806510) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries