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Gene MSH2
Variant N412H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH2 N412H lies within the lever domain of the Msh2 protein (PMID: 17531815). N412H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 N412H

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Transcript NM_000251.3
gDNA chr2:g.47429899A>C
cDNA c.1234A>C
Protein p.N412H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406646.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406655.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_000251 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406631.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406638.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406648.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406633.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406644.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406674.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406634.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406666.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_000251.2 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406657.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406639.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406642.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
XM_011532867 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406632.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406635.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_000251.3 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406637.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406640.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406645.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
XM_011532867.2 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
XM_005264332 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
NM_001406643.1 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
XM_005264332.4 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
XM_047444416.1 chr2:g.47429899A>C c.1234A>C p.N412H 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 )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References