Varaico: Literature-Extracted Genetic Variants

Gene:TET2

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
1–12 of 7469 variants
114 papers
NM_001127208.3
p.I1873T
c.5618T>C
95 papers
NM_001127208.3
p.R550*
c.1648C>T
90 papers
NM_001127208.3
p.I1762V
c.5284A>G
87 papers
NM_001127208.3
p.R1516*
c.4546C>T
82 papers
NM_001127208.3
p.R1465*
c.4393C>T
76 papers
NM_001127208.3
p.R1216*
c.3646C>T
74 papers
NM_001127208.3
p.R1261H
c.3782G>A
71 papers
NM_001127208.3
p.R544*
c.1630C>T
62 papers
NM_001127208.3
p.Q916*
c.2746C>T
62 papers
NM_001127208.3
p.L1721W
c.5162T>G
59 papers
NM_001127208.3
p.Y867H
c.2599T>C
59 papers
NM_001127208.3
p.R1404*
c.4210C>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."