MSH2 C822fs
Gene Variant Detail

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Gene MSH2
Variant C822fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH2 C822fs results in a change in the amino acid sequence of the Msh2 protein beginning at aa 822 of 934, likely resulting in premature truncation of the functional protein (UniProt.org). C822fs is associated with loss of Msh2 expression in patient samples (PMID: 40625767), but has not been fully biochemically characterized and therefore, its effect on Msh2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 C822fs

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Transcript NM_000251.3
gDNA chr2:g.(47480700_47480701)
cDNA c.(2464_2463)
Protein p.C822fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406642.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406640.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406674.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406633.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
XM_047444416.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_000251.3 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406645.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406637.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406631.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406644.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406639.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406634.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406632.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406643.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406648.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406646.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs RefSeq GRCh38/hg38
NM_001406635.1 chr2:g.(47480700_47480701) c.(2464_2463) p.C822fs 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MSH2 C822fs unknown
MSH2 C822fs MSH2 neg MSH6 T1085fs MSH6 neg