Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q729*

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
4 papers
NM_001127208.3
p.Q729*
c.2185C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q729E
c.2185C>G
2 papers
NM_001127208.3
p.T730delFs
c.2188delA
1 paper
NM_001127208.3
p.Q729fs
c.2185_2186fs
1 paper
NM_001127208.3
p.T730del1
c.2188_2189delACA
2 papers
NM_001127208.3
p.T730delFs
c.2188_2189delAC
1 paper
NM_001127208.3
p.T730fs
c.2188_2189fs
2 papers
NM_001127208.3
p.A728fs
c.2182_2183fs
1 paper
NM_001127208.3
p.A728_S733delFs
c.2183_2199del17
1 paper
NM_001127208.3
p.T730_Q731insFs
c.2190_2191insA
1 paper
NM_001127208.3
p.T730R
c.2189C>G
1 paper
NM_001127208.3
p.A727V
c.2180C>T
1 paper
NM_001127208.3
p.Q731insFs
c.2193dupA
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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."