Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S714*

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.S714*
c.2141C>A
Surrounding Variants
5 papers
NM_001127208.3
p.S714*
c.2141C>G
2 papers
NM_001127208.3
p.S714delFs
c.2142delA
1 paper
NM_001127208.3
p.S714T
c.2140T>A
2 papers
NM_001127208.3
p.S714fs
c.2140_2141fs
2 papers
NM_001127208.3
p.S714fs
c.2140_2141fs
2 papers
NM_001127208.3
p.N715fs
c.2143_2144fs
2 papers
NM_001127208.3
p.N715D
c.2143A>G
1 paper
NM_001127208.3
p.N715S
c.2144A>G
1 paper
NM_001127208.3
p.F713_S714ins7
c.2137_2141ins21
1 paper
NM_001127208.3
p.F713_P723insFs
c.2139_2169dup31
1 paper
NM_001127208.3
p.S714insFs
c.2140dupT
1 paper
NM_001127208.3
p.S714delFs
c.2140delT
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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."