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Gene TET2
Variant Y1295A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 Y1295A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). Y1295A results in a minor decrease in Tet2 enzymatic activity in conjunction with S1290A in an in vitro assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 Y1295A

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Transcript NM_001127208.3
gDNA chr4:g.105259698_105259699delTAinsGC
cDNA c.3883_3884delTAinsGC
Protein p.Y1295A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208.2 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_005263082 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
NM_001127208 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105259698_105259699delTAinsGC c.3883_3884delTAinsGC p.Y1295A RefSeq GRCh38/hg38

Filtering

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

Sorting

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