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 TET2
Variant D545Tfs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 D545Tfs*10 indicates a shift in the reading frame starting at amino acid 545 and terminating 10 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). D545Tfs*10 has not been characterized however, due to the effects of other truncation mutations downstream of D545 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 D545Tfs*10

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_001127208.3
gDNA chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT
cDNA c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT
Protein p.D545Tfs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047415840.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105235574_105235575insACCCCCCCCCCCCCCCCCCCCCCCCCAT c.1632_1633insACCCCCCCCCCCCCCCCCCCCCCCCCAT p.D545Tfs*10 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