Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E149*

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
4 papers
NM_001127208.3
p.E149*
c.445G>T
Surrounding Variants
1 paper
NM_001127208.3
p.E149fs
c.445_446fs
1 paper
NM_001127208.3
p.K148N
c.444A>T
2 papers
NM_001127208.3
p.K148fs
c.442_443fs
1 paper
NM_001127208.3
p.K148fs
c.442_443fs
1 paper
NM_001127208.3
p.V151delFs
c.452_453delTG
1 paper
NM_001127208.3
p.K148insFs
c.442dupA
1 paper
NM_001127208.3
p.K148delFs
c.444delA
1 paper
NM_001127208.3
p.K148_E149delFs
c.442_446del5
1 paper
NM_001127208.3
p.K147fs
c.439_440fs
1 paper
NM_001127208.3
p.K147*
c.439A>T
1 paper
NM_001127208.3
p.V151fs
c.451_452fs
1 paper
NM_001127208.3
p.V151_S153delFs
c.452_458del7
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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."