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Gene TET2
Variant R1179Efs*47
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 R1179Efs*47 indicates a shift in the reading frame starting at amino acid 1179 and terminating 47 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). R1179Efs*47 has not been characterized however, due to the effects of other truncation mutations downstream of R1179 (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 R1179Efs*47

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Transcript NM_001127208.3
gDNA chr4:g.105242868delA
cDNA c.3535delA
Protein p.R1179Efs*47
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454103.2 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105242868delA c.3535delA p.R1179Efs*47 RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.(105242868_105259702) c.(3535_3678) p.R1179Efs*47 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries