Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H800N

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.H800N
c.2398C>A
Surrounding Variants
3 papers
NM_001127208.3
p.H800fs
c.2398_2399fs
1 paper
NM_001127208.3
p.H800Y
c.2398C>T
4 papers
NM_001127208.3
p.H800_N801delFs
c.2400_2401delTA
3 papers
NM_001127208.3
p.H800fs
c.2398_2399fs
1 paper
NM_001127208.3
p.H800_N801Fs
c.2399_2401delinsGGGGFs
1 paper
NM_001127208.3
p.N801delFs
c.2402delA
1 paper
NM_001127208.3
p.T799fs
c.2395_2396fs
1 paper
NM_001127208.3
p.N801fs
c.2401_2402fs
1 paper
NM_001127208.3
p.N801D
c.2401A>G
2 papers
NM_001127208.3
p.N801fs
c.2401_2402fs
1 paper
NM_001127208.3
p.N801delFs
c.2403delT
3 papers
NM_001127208.3
p.E798K
c.2392G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."