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 E1254del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MSH6 E1254del results in the deletion of an amino acid in the ATPase domain of the Msh6 protein at amino acid 1254 (PMID: 17531815). E1254del 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 E1254del

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.47806319_47806321delAGA
cDNA c.3762_3764delAGA
Protein p.E1254delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406813.1 chr2:g.47806311_47806313delTTA c.3760_3762delTTA p.L1254delL RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47806584_47806586delGTT c.3760_3762delGTT p.V1254delV RefSeq GRCh38/hg38
NM_001406805.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
XM_011532798 chr2:g.47806593_47806595delAAG c.3760_3762delAAG p.K1254delK RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47806221_47806223delTTT c.3760_3762delTTT p.F1254delF RefSeq GRCh38/hg38
NM_001406828.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
XM_011532799 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
NM_001406827.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406821.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406797.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406820.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47806500_47806502delACG c.3760_3762delACG p.T1254delT RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
NM_001406825.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
XM_024452821.1 chr2:g.47806614_47806616delGAA c.3760_3762delGAA p.E1254delE RefSeq GRCh38/hg38
NM_001406824.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47806488_47806490delCAG c.3760_3762delCAG p.Q1254delQ RefSeq GRCh38/hg38
NM_001406819.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
NM_001406826.1 chr2:g.47806580_47806582delGGA c.3762_3764delGGA p.E1255delE RefSeq GRCh38/hg38
NM_001406830.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_000179 chr2:g.47806319_47806321delAGA c.3762_3764delAGA p.E1254delE RefSeq GRCh38/hg38
NM_001406818.1 chr2:g.47806834_47806836delTTG c.3760_3762delTTG p.L1255delL RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47806221_47806223delTTT c.3760_3762delTTT p.F1254delF 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