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Gene MSH6
Variant S144I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MSH6 S144I lies within the PWWP domain of the Msh6 protein (UniProt.org). S144I demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 31965077), and results in Msh2 and DNA binding (PMID: 12019211, PMID: 18484749, PMID: 21120944) and subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S144I

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Transcript NM_000179.3
gDNA chr2:g.47791097G>T
cDNA c.431G>T
Protein p.S144I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406832.1 chr2:g.47805645G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47796034_47796035delTCinsAT c.430_431delTCinsAT p.S144I RefSeq GRCh38/hg38
NM_001281492 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791097G>T c.431G>T p.S144I 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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  • 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