Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R550*

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
95 papers
NM_001127208.3
p.R550*
c.1648C>T
Surrounding Variants
1 paper
NM_001127208.3
p.R550fs
c.1648_1649fs
4 papers
NM_001127208.3
p.R550Q
c.1649G>A
1 paper
NM_001127208.3
p.R550L
c.1649G>T
1 paper
NM_001127208.3
p.D551delFs
c.1651delG
1 paper
NM_001127208.3
p.T549delFs
c.1647delA
1 paper
NM_001127208.3
p.T549fs
c.1645_1646fs
1 paper
NM_001127208.3
p.T549P
c.1645A>C
1 paper
NM_001127208.3
p.T549A
c.1645A>G
2 papers
NM_001127208.3
p.D551fs
c.1651_1652fs
2 papers
NM_001127208.3
p.D551A
c.1652A>C
1 paper
NM_001127208.3
p.T549_R550delFs
c.1647_1648delAC
2 papers
NM_001127208.3
p.Q548L
c.1643A>T
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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."