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Gene MSH6
Variant S285I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S285I does not lie within any known functional domains of the Msh6 protein (UniProt.org). S285I demonstrates mismatch stimulated ATPase activity similar to wild-type Msh6 protein in an in vitro ATPase assay (PMID: 18790734), and subcellular localization similar to wild-type in culture in one study (PMID: 22851212), but decreased nuclear localization in cultured cells in another study (PMID: 21437237), and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S285I

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Transcript NM_000179.3
gDNA chr2:g.47798837G>T
cDNA c.854G>T
Protein p.S285I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.2 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47799019_47799020delTCinsAT c.853_854delTCinsAT p.S285I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47799004_47799005delTCinsAT c.853_854delTCinsAT p.S285I RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_000179 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798837G>T c.854G>T p.S285I RefSeq GRCh38/hg38
XM_011532798 chr2:g.47799019_47799020delTCinsAT c.853_854delTCinsAT p.S285I 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 Protein Effect Treatment Approaches
MSH6 S285I unknown