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 R383G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 R383G lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R383G has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 R383G

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.47799130A>G
cDNA c.1147A>G
Protein p.R383G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406796.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
XM_011532799 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47803449C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406822.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_000179 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47799130A>G c.1147A>G p.R383G RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47799427C>G c.1147C>G p.R383G RefSeq GRCh38/hg38
NM_001406801.1 chr2:g.47799427C>G c.1147C>G p.R383G 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