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Gene MSH6
Variant E181A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 E181A does not lie within any known functional domains of the Msh6 protein (UniProt.org). E181A does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 E181A

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Transcript NM_000179.3
gDNA chr2:g.47795978A>C
cDNA c.542A>C
Protein p.E181A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406831.1 chr2:g.47806318A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47795978A>C c.542A>C p.E181A RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47796056A>C c.542A>C p.E181A RefSeq GRCh38/hg38

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