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Gene MSH6
Variant E993K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 E993K lies within the clamp domain of the Msh6 protein (PMID: 17531815). E993K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 E993K

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Transcript NM_000179.3
gDNA chr2:g.47800960G>A
cDNA c.2977G>A
Protein p.E993K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47803614G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47803614G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47806491G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_000179 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800960G>A c.2977G>A p.E993K RefSeq GRCh38/hg38
NM_001281492 chr2:g.47803614G>A c.2977G>A p.E993K RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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