Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1805T

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.N1805T
c.5414A>C
Surrounding Variants
2 papers
NM_001127208.3
p.N1805fs
c.5413_5414fs
1 paper
NM_001127208.3
p.N1805_H1806Fs
c.5413_5416delinsTTFs
1 paper
NM_001127208.3
p.H1806fs
c.5416_5417fs
2 papers
NM_001127208.3
p.N1805delFs
c.5414delA
1 paper
NM_001127208.3
p.N1805_D1807delFs
c.5413_5420del8
1 paper
NM_001127208.3
p.H1806R
c.5417A>G
1 paper
NM_001127208.3
p.L1804_N1805insAAT
c.5410_5414ins9
1 paper
NM_001127208.3
p.L1804V
c.5410C>G
1 paper
NM_001127208.3
p.L1804delFs
c.5412delT
1 paper
NM_001127208.3
p.D1807H
c.5419G>C
1 paper
NM_001127208.3
p.A1803T
c.5407G>A
1 paper
NM_001127208.3
p.R1808delFs
c.5423_5424delGA
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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."