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Gene | TET2 |
Variant | Q317fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 Q317fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 317 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Q317fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q317 (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 Q317fs |
Transcript | NM_001127208.3 |
gDNA | chr4:g.(105234890_105234891) |
cDNA | c.(949_948) |
Protein | p.Q317fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454103.2 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_047415843.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_047415841.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_017008319.2 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_047415842.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_017008319.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_047415839.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.(105234890_105234891) | c.(949_948) | p.Q317fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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