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Gene MSH6
Variant K13T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 K13T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K13T demonstrates intermediate 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 K13T

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Transcript NM_000179.3
gDNA chr2:g.47783271A>C
cDNA c.38A>C
Protein p.K13T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001281492 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_000179 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47783271A>C c.38A>C p.K13T RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47783271A>C c.38A>C p.K13T 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries