Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q626*

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.Q626*
c.1876C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q626K
c.1876C>A
1 paper
NM_001127208.3
p.Q626fs
c.1876_1877fs
1 paper
NM_001127208.3
p.N639insFs
c.1916_1917ins41
5 papers
NM_001127208.3
p.T625I
c.1874C>T
1 paper
NM_001127208.3
p.T625fs
c.1873_1874fs
1 paper
NM_001127208.3
p.L627L
c.1879C>T
1 paper
NM_001127208.3
p.T625delFs
c.1874_1875delCA
1 paper
NM_001127208.3
p.E628delFs
c.1882delG
1 paper
NM_001127208.3
p.T624delFs
c.1872delA
1 paper
NM_001127208.3
p.T624fs
c.1870_1871fs
1 paper
NM_001127208.3
p.T624A
c.1870A>G
1 paper
NM_001127208.3
p.T624delFs
c.1871delC
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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."