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Gene TET2
Variant K1171fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 K1171fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1171 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). K1171fs has not been characterized however, due to the effects of other truncation mutations downstream of K1171 (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 K1171fs

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Transcript NM_001127208.3
gDNA chr4:g.(105242843_105242844)
cDNA c.(3511_3510)
Protein p.K1171fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208.2 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_005263082 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38
NM_001127208 chr4:g.(105242843_105242844) c.(3511_3510) p.K1171fs RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TET2 K1171fs loss of function - predicted