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 D1171fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH6 D1171fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1171 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). D1171fs (reported as D1171fs*5) 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 D1171fs

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.(47804981_47804982)
cDNA c.(3511_3510)
Protein p.D1171fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406799.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_000179 chr2:g.(47804981_47804982) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406806.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs RefSeq GRCh38/hg38
NM_001406807.1 chr2:g.(47806812_47806813) c.(3511_3510) p.D1171fs 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