Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1870P

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
6 papers
NM_001127208.3
p.S1870P
c.5608T>C
Surrounding Variants
4 papers
NM_001127208.3
p.S1870*
c.5609C>A
1 paper
NM_001127208.3
p.S1870ins13
c.5609_5610ins39
4 papers
NM_001127208.3
p.S1870*
c.5609C>G
8 papers
NM_001127208.3
p.S1870L
c.5609C>T
3 papers
NM_001127208.3
p.G1869E
c.5606G>A
1 paper
NM_001127208.3
p.G1869V
c.5606G>T
1 paper
NM_001127208.3
p.I1871fs
c.5611_5612fs
2 papers
NM_001127208.3
p.I1871V
c.5611A>G
1 paper
NM_001127208.3
p.G1869R
c.5605G>A
1 paper
NM_001127208.3
p.G1869R
c.5605G>C
1 paper
NM_001127208.3
p.G1869fs
c.5605_5606fs
4 papers
NM_001127208.3
p.G1869W
c.5605G>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."