Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N582fs

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.N582fs
c.1744_1745fs
Surrounding Variants
3 papers
NM_001127208.3
p.N582S
c.1745A>G
8 papers
NM_001127208.3
p.R581H
c.1742G>A
1 paper
NM_001127208.3
p.R581fs
c.1741_1742fs
3 papers
NM_001127208.3
p.R581C
c.1741C>T
1 paper
NM_001127208.3
p.E583fs
c.1747_1748fs
1 paper
NM_001127208.3
p.E583*
c.1747G>T
1 paper
NM_001127208.3
p.E583fs
c.1747_1748fs
1 paper
NM_001127208.3
p.E583_L586del0
c.1748_1756del9
1 paper
NM_001127208.3
p.E583_L586delFs
c.1749_1756del8
2 papers
NM_001127208.3
p.K580*
c.1738A>T
1 paper
NM_001127208.3
p.A584T
c.1750G>A
1 paper
NM_001127208.3
p.A584P
c.1750G>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."