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@jax.org

Gene MSH6
Variant E544fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 E544fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 544 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). E544fs (reported as E544fs*26) has not been biochemically characterized, but is associated with a loss of Msh6 protein expression and increased microsatellite instability in tumor samples (PMID: 14974087), 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 E544fs

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_000179.3
gDNA chr2:g.(47799612_47799613)
cDNA c.(1630_1629)
Protein p.E544fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406798.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281494.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281494 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406823.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281494.2 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281493.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406811.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406815.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281493 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406816.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406814.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.(47799516_47799517) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001281493.2 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.(47799516_47799517) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406812.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
XM_024452822.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs 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
MSH6 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 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...
MSH6 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...
MSH6 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MSH6 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...
MSH6 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH6 mutant colorectal cancer not applicable N/A Clinical Study Diagnostic Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). 26582061 19125127