Gene Variant Detail

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Gene MSH6
Variant E1254del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MSH6 E1254del results in the deletion of one amino acid in the ATPase domain of the Msh6 protein at amino acid 1254 (PMID: 17531815). E1254del has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2020).
Associated Drug Resistance

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Transcript NM_000179
gDNA chr2:g.47806319_47806321delAGA
cDNA c.3762_3764delAGA
Protein p.E1254delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
XM_011532798 chr2:g.47806593_47806595delAAG c.3760_3762delAAG p.K1254delK RefSeq GRCh38/hg38
XM_011532799 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
MSH6 E1254del unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References