Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q886H

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.Q886H
c.2658G>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q886H
c.2658G>C
1 paper
NM_001127208.3
p.E887*
c.2659G>T
1 paper
NM_001127208.3
p.E887fs
c.2659_2660fs
1 paper
NM_001127208.3
p.E887_Q888delFs
c.2661_2662delGC
1 paper
NM_001127208.3
p.Q886fs
c.2656_2657fs
9 papers
NM_001127208.3
p.Q886*
c.2656C>T
1 paper
NM_001127208.3
p.Q886fs
c.2656_2657fs
1 paper
NM_001127208.3
p.E887_A893Fs
c.2661_2678delinsCACACACAAGGFs
1 paper
NM_001127208.3
p.Q888insFs
c.2663dupA
15 papers
NM_001127208.3
p.Q888*
c.2662C>T
1 paper
NM_001127208.3
p.E885_Q886insFs
c.2655_2656insA
1 paper
NM_001127208.3
p.E885fs
c.2653_2654fs
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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."