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TET2 E1207K - Gene Variant Detail

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Gene TET2
Variant E1207K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 E1207K lies within the catalytic domain of the Tet2 protein (PMID: 24315485). E1207K has been identified in sequencing studies (PMID: 30279227, PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 E1207K

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Transcript NM_001127208.3
gDNA chr4:g.105243594G>A
cDNA c.3619G>A
Protein p.E1207K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208.2 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105243594G>A c.3619G>A p.E1207K RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References