Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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.

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_001406657.1 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
XM_005264332 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_001406643.1 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_047444416.1 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_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_001406645.1 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
XM_011532867 chr2:g.47429899A>C c.1234A>C p.N412H RefSeq GRCh38/hg38
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_001406640.1 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_001406634.1 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_000251.3 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
NM_001406639.1 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_001406633.1 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_001406635.1 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
NM_001406644.1 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
MSH2 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MSH2 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MSH2 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH2 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MSH2 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MSH2 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...