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Gene MSH6
Variant E286K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 E286K does not lie within any known functional domains of the Msh6 protein (UniProt.org). E286K 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 E286K

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Transcript NM_000179.3
gDNA chr2:g.47798839G>A
cDNA c.856G>A
Protein p.E286K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
XM_011532798 chr2:g.47799022G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_000179 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406831.1 chr2:g.47806852G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47799022G>A c.856G>A p.E286K RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798839G>A c.856G>A p.E286K RefSeq GRCh38/hg38

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Sorting

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