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 V304A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 V304A does not lie within any known functional domains of the Msh6 protein (UniProt.org). V304A does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 V304A

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.47798894T>C
cDNA c.911T>C
Protein p.V304A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_000179 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798894T>C c.911T>C p.V304A 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