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Gene MSH6
Variant V450A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 V450A lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V450A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 V450A

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Transcript NM_000179.3
gDNA chr2:g.47799332T>C
cDNA c.1349T>C
Protein p.V450A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406800.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_000179 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799332T>C c.1349T>C p.V450A RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References