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Gene MSH2
Variant K550T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH2 K550T lies within the clamp domain of the Msh2 protein (PMID: 17531815). K550T 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 K550T

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Transcript NM_000251.3
gDNA chr2:g.47466796A>C
cDNA c.1649A>C
Protein p.K550T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406638.1 chr2:g.47466757A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_000251 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406637.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406646.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406640.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406631.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_000251.2 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
XM_005264332.4 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406648.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406635.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406674.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
XM_047444416.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406645.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
XM_011532867 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
XM_011532867.2 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406632.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406642.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406644.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406657.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406639.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406655.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406643.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406633.1 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
XM_005264332 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_000251.3 chr2:g.47466796A>C c.1649A>C p.K550T RefSeq GRCh38/hg38
NM_001406634.1 chr2:g.47466796A>C c.1649A>C p.K550T 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 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 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 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 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 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...
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 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...