Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N598delFs

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
4 papers
NM_001127208.3
p.N598delFs
c.1793delA
Surrounding Variants
4 papers
NM_001127208.3
p.N598fs
c.1792_1793fs
2 papers
NM_001127208.3
p.N598fs
c.1792_1793fs
1 paper
NM_001127208.3
p.N598_Q599delFs
c.1794_1797del4
1 paper
NM_001127208.3
p.Q599_T606del0
c.1795_1818del24
1 paper
NM_001127208.3
p.S597P
c.1789T>C
1 paper
NM_001127208.3
p.S597fs
c.1789_1790fs
1 paper
NM_001127208.3
p.Q599fs
c.1795_1796fs
4 papers
NM_001127208.3
p.Q599*
c.1795C>T
1 paper
NM_001127208.3
p.Q599delFs
c.1796delA
7 papers
NM_001127208.3
p.Q599R
c.1796A>G
1 paper
NM_001127208.3
p.L596V
c.1786C>G
1 paper
NM_001127208.3
p.M600fs
c.1798_1799fs
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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."