Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S708*

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.S708*
c.2123C>G
Surrounding Variants
1 paper
NM_001127208.3
p.S708*
c.2123C>A
1 paper
NM_001127208.3
p.S708insFs
c.2123_2124ins11
1 paper
NM_001127208.3
p.S708L
c.2123C>T
1 paper
NM_001127208.3
p.S708fs
c.2122_2123fs
3 papers
NM_001127208.3
p.E709K
c.2125G>A
3 papers
NM_001127208.3
p.E709*
c.2125G>T
1 paper
NM_001127208.3
p.E709fs
c.2125_2126fs
1 paper
NM_001127208.3
p.S708_F713delFs
c.2123_2138del16
1 paper
NM_001127208.3
p.A707fs
c.2119_2120fs
2 papers
NM_001127208.3
p.A707S
c.2119G>T
3 papers
NM_001127208.3
p.A707fs
c.2119_2120fs
1 paper
NM_001127208.3
p.Q706H
c.2118G>C
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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."