Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q574delFs

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
2 papers
NM_001127208.3
p.Q574delFs
c.1720delC
Surrounding Variants
1 paper
NM_001127208.3
p.H573fs
c.1717_1718fs
1 paper
NM_001127208.3
p.H573Q
c.1719C>G
1 paper
NM_001127208.3
p.H573Y
c.1717C>T
2 papers
NM_001127208.3
p.Q574fs
c.1720_1721fs
1 paper
NM_001127208.3
p.Q574E
c.1720C>G
9 papers
NM_001127208.3
p.Q574*
c.1720C>T
1 paper
NM_001127208.3
p.Q574delFs
c.1722delA
1 paper
NM_001127208.3
p.H573delFs
c.1718_1719delAC
1 paper
NM_001127208.3
p.Q574_A575insFs
c.1722_1723insC
1 paper
NM_001127208.3
p.A575fs
c.1723_1724fs
4 papers
NM_001127208.3
p.A575V
c.1724C>T
10 papers
NM_001127208.3
p.R571H
c.1712G>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."