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Gene MSH6
Variant V398E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 V398E lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V398E demonstrates deficient mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), and therefore, is predicted to lead to a loss of Msh6 protein function.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 inact mut MSH6 V398E

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Transcript NM_000179.3
gDNA chr2:g.47799176T>A
cDNA c.1193T>A
Protein p.V398E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_000179 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799176T>A c.1193T>A p.V398E RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47799254_47799255delTCinsAG c.1193_1194delTCinsAG p.V398E RefSeq GRCh38/hg38

Filtering

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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 )
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
MSH6 V398E loss of function - predicted