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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

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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_001406812.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406829.1 chr2:g.(47800518_47800519) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406795.1 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_001406798.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_000179 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_001406815.1 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
NM_001406816.1 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
XM_024452822.1 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_001406809.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.(47799516_47799517) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406808.1 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_001406811.1 chr2:g.(47800518_47800519) 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_001406814.1 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_001406796.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.(47799612_47799613) c.(1630_1629) p.E544fs 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

  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries