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Gene TET2
Variant H222Tfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 H222Tfs*3 indicates a shift in the reading frame starting at amino acid 222 and terminating 3 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). H222Tfs*3 has not been characterized however, due to the effects of other truncation mutations downstream of H222 (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 H222Tfs*3

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Transcript NM_001127208.3
gDNA chr4:g.105234605dupA
cDNA c.663dupA
Protein p.H222Tfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008319.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105234605dupA c.663dupA p.H222Tfs*3 RefSeq GRCh38/hg38

Filtering

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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References