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Gene MSH6
Variant E1234*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions MSH6 E1234* results in a premature truncation of the Msh6 protein at amino acid 1234 of 1360 (UniProt.org). E1234* has been identified in the scientific literature (PMID: 27149842, PMID: 35101943, PMID: 36765365), 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 E1234*

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Transcript NM_000179.3
gDNA chr2:g.47806257G>T
cDNA c.3700G>T
Protein p.E1234*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_000179 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806257G>T c.3700G>T p.E1234* RefSeq GRCh38/hg38

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  • 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")

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