Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1813H

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.Q1813H
c.5439A>C
Surrounding Variants
1 paper
NM_001127208.3
p.Q1813H
c.5439A>T
1 paper
NM_001127208.3
p.G1814_G1815del2
c.5440_5444del6
2 papers
NM_001127208.3
p.G1814*
c.5440G>T
6 papers
NM_001127208.3
p.Q1813*
c.5437C>T
1 paper
NM_001127208.3
p.G1815_G1824del10
c.5443_5471del30
1 paper
NM_001127208.3
p.G1815fs
c.5443_5444fs
1 paper
NM_001127208.3
p.G1815D
c.5444G>A
1 paper
NM_001127208.3
p.V1812fs
c.5434_5435fs
1 paper
NM_001127208.3
p.V1812_H1817delFs
c.5435_5450del16
1 paper
NM_001127208.3
p.L1816_H1817delFs
c.5446_5450del5
1 paper
NM_001127208.3
p.C1811*
c.5433T>A
2 papers
NM_001127208.3
p.L1816fs
c.5446_5447fs
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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."