Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E539D

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.E539D
c.1617G>C
Surrounding Variants
1 paper
NM_001127208.3
p.E539D
c.1617G>T
1 paper
NM_001127208.3
p.E539_I540ins1
c.1617_1618insTGG
1 paper
NM_001127208.3
p.I540fs
c.1618_1619fs
2 papers
NM_001127208.3
p.I540V
c.1618A>G
3 papers
NM_001127208.3
p.I540delFs
c.1620delT
1 paper
NM_001127208.3
p.E539K
c.1615G>A
1 paper
NM_001127208.3
p.E539fs
c.1615_1616fs
1 paper
NM_001127208.3
p.E539*
c.1615G>T
1 paper
NM_001127208.3
p.E539delFs
c.1615delG
1 paper
NM_001127208.3
p.L541M
c.1621C>A
2 papers
NM_001127208.3
p.Q538fs
c.1612_1613fs
8 papers
NM_001127208.3
p.Q538*
c.1612C>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."