Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I264fs

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
2 papers
NM_001127208.3
p.I264fs
c.790_791fs
Surrounding Variants
1 paper
NM_001127208.3
p.I264N
c.791T>A
1 paper
NM_001127208.3
p.E263G
c.788A>G
1 paper
NM_001127208.3
p.T265S
c.793A>T
1 paper
NM_001127208.3
p.E263_I264insFs
c.788_791dup4
2 papers
NM_001127208.3
p.E263*
c.787G>T
1 paper
NM_001127208.3
p.E263delFs
c.788delA
1 paper
NM_001127208.3
p.E263fs
c.787_788fs
1 paper
NM_001127208.3
p.T265S
c.794C>G
1 paper
NM_001127208.3
p.C262_E263insFs
c.786_787ins4
1 paper
NM_001127208.3
p.E263delFs
c.787delG
2 papers
NM_001127208.3
p.H266Y
c.796C>T
1 paper
NM_001127208.3
p.C262fs
c.784_785fs
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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."