Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L668*

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
2 papers
NM_001127208.3
p.L668*
c.2003T>A
Surrounding Variants
2 papers
NM_001127208.3
p.L668*
c.2003T>G
1 paper
NM_001127208.3
p.P669fs
c.2005_2006fs
1 paper
NM_001127208.3
p.P669Q
c.2006C>A
1 paper
NM_001127208.3
p.P669insFs
c.2006_2007insT
1 paper
NM_001127208.3
p.P669L
c.2006C>T
2 papers
NM_001127208.3
p.K670delFs
c.2010delA
2 papers
NM_001127208.3
p.H667fs
c.1999_2000fs
1 paper
NM_001127208.3
p.H667fs
c.1999_2000fs
1 paper
NM_001127208.3
p.K670fs
c.2008_2009fs
1 paper
NM_001127208.3
p.K670fs
c.2008_2009fs
1 paper
NM_001127208.3
p.H667insFs
c.1999dupC
1 paper
NM_001127208.3
p.D666A
c.1997A>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."