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 S950I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S950I lies within the clamp domain of the Msh6 protein (PMID: 17531815). S950I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 S950I

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.47800832G>T
cDNA c.2849G>T
Protein p.S950I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179.3 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_000179 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47800832G>T c.2849G>T p.S950I RefSeq GRCh38/hg38
XM_011532799 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47801128_47801129delTCinsAT c.2848_2849delTCinsAT p.S950I 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