Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K858N

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.K858N
c.2574G>T
Surrounding Variants
1 paper
NM_001127208.3
p.K858N
c.2574G>C
1 paper
NM_001127208.3
p.K858_T859insC
c.2572_2576ins3
2 papers
NM_001127208.3
p.K858*
c.2572A>T
1 paper
NM_001127208.3
p.Q860_Y867del8
c.2578_2600del24
1 paper
NM_001127208.3
p.N857T
c.2570A>C
2 papers
NM_001127208.3
p.N857S
c.2570A>G
1 paper
NM_001127208.3
p.N857I
c.2570A>T
1 paper
NM_001127208.3
p.Q860fs
c.2578_2579fs
7 papers
NM_001127208.3
p.Q860*
c.2578C>T
1 paper
NM_001127208.3
p.N861delFs
c.2582delA
1 paper
NM_001127208.3
p.N857fs
c.2569_2570fs
1 paper
NM_001127208.3
p.Q860H
c.2580A>C
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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."