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Gene TET2
Variant Y1294A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 Y1294A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). Y1294A results in a significant decrease in Tet2 enzymatic activity in conjunction with M1293A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 Y1294A

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Transcript NM_001127208.3
gDNA chr4:g.105259695_105259696delTAinsGC
cDNA c.3880_3881delTAinsGC
Protein p.Y1294A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_005263082 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105259695_105259696delTAinsGC c.3880_3881delTAinsGC p.Y1294A RefSeq GRCh38/hg38

Filtering

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Sorting

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