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Gene TET2
Variant I249fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 I249fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 249 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). I249fs has not been characterized, however, due to the effects of other truncation mutations downstream of I249 (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 I249fs

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Transcript NM_001127208.3
gDNA chr4:g.(105234686_105234687)
cDNA c.(745_744)
Protein p.I249fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008319.2 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
NM_017628.4 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
NM_017628.4 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.(105234686_105234687) c.(745_744) p.I249fs 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 Protein Effect Treatment Approaches
TET2 I249fs loss of function - predicted