Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1411*

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.E1411*
c.4231G>T
Surrounding Variants
1 paper
NM_001127208.3
p.E1411K
c.4231G>A
1 paper
NM_001127208.3
p.E1411Q
c.4231G>C
1 paper
NM_001127208.3
p.E1411fs
c.4231_4232fs
2 papers
NM_001127208.3
p.P1410L
c.4229C>T
3 papers
NM_001127208.3
p.P1410fs
c.4228_4229fs
1 paper
NM_001127208.3
p.P1410fs
c.4228_4229fs
3 papers
NM_001127208.3
p.D1412Y
c.4234G>T
1 paper
NM_001127208.3
p.P1410delFs
c.4228delC
1 paper
NM_001127208.3
p.D1412E
c.4236T>A
1 paper
NM_001127208.3
p.D1412E
c.4236T>G
1 paper
NM_001127208.3
p.E1413*
c.4237G>T
1 paper
NM_001127208.3
p.E1413G
c.4238A>G
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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."