Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q821E

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.Q821E
c.2461C>G
Surrounding Variants
1 paper
NM_001127208.3
p.Q821fs
c.2461_2462fs
5 papers
NM_001127208.3
p.Q821*
c.2461C>T
1 paper
NM_001127208.3
p.T822insFs
c.2464dupA
1 paper
NM_001127208.3
p.S820I
c.2459G>T
1 paper
NM_001127208.3
p.T822P
c.2464A>C
1 paper
NM_001127208.3
p.T822delFs
c.2466delC
1 paper
NM_001127208.3
p.T822fs
c.2464_2465fs
1 paper
NM_001127208.3
p.S820fs
c.2458_2459fs
2 papers
NM_001127208.3
p.Y819*
c.2457T>A
2 papers
NM_001127208.3
p.Y819*
c.2457T>G
1 paper
NM_001127208.3
p.S820_I830del0
c.2459_2488del30
1 paper
NM_001127208.3
p.M823_K824delFs
c.2467_2471del5
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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."