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 I1283fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH6 I1283fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1283 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1283fs has been identified in the scientific literature (PMID: 34018286), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 I1283fs

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.(47806496_47806497)
cDNA c.(3847_3846)
Protein p.I1283fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.(47806509_47806510) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_000179.2 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs RefSeq GRCh38/hg38
NM_000179.3 chr2:g.(47806496_47806497) c.(3847_3846) p.I1283fs 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