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Gene MSH6
Variant L435P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 L435P lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L435P results in decreased Msh6 stability in cultured cells and loss of mismatch repair activity in an in vitro assay (PMID: 22581703), 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 L435P

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Transcript NM_000179.3
gDNA chr2:g.47799287T>C
cDNA c.1304T>C
Protein p.L435P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452819.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47799677T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47799191T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799287T>C c.1304T>C p.L435P RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47799191T>C c.1304T>C p.L435P RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MSH6 L435P loss of function - predicted