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 MSH6
Variant S144I
Impact List missense
Protein Effect no effect
Gene Variant Descriptions MSH6 S144I lies within the PWWP domain of the Msh6 protein (UniProt.org). S144I demonstrates proficient mismatch repair activity in an in vitro assay (PMID: 31965077), and results in Msh2 and DNA binding (PMID: 12019211, PMID: 18484749, PMID: 21120944) and subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S144I

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.47791097G>T
cDNA c.431G>T
Protein p.S144I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406803.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47796034_47796035delTCinsAT c.430_431delTCinsAT p.S144I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_000179 chr2:g.47791097G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406832.1 chr2:g.47805645G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001281492 chr2:g.47798804G>T c.431G>T p.S144I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47791097G>T c.431G>T p.S144I 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries