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Gene | TET2 |
Variant | L1514H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 L1514H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). L1514H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 L1514H |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105275051T>A |
cDNA | c.4541T>A |
Protein | p.L1514H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005263082.4 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105275051T>A | c.4541T>A | p.L1514H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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