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Gene | TET2 |
Variant | H1380L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 H1380L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1380L has been identified in sequencing studies (PMID: 24345752, PMID: 29386642), 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 H1380L |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105269704A>T |
cDNA | c.4139A>T |
Protein | p.H1380L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127208 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105269704A>T | c.4139A>T | p.H1380L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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