Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T556fs

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
7 papers
NM_001127208.3
p.T556fs
c.1666_1667fs
Surrounding Variants
2 papers
NM_001127208.3
p.T556fs
c.1666_1667fs
1 paper
NM_001127208.3
p.Q557_H558del2
c.1669_1673del6
1 paper
NM_001127208.3
p.T556insFs
c.1666dupA
2 papers
NM_001127208.3
p.P555L
c.1664C>T
1 paper
NM_001127208.3
p.P555_T556delFs
c.1665_1666delAA
2 papers
NM_001127208.3
p.P555fs
c.1663_1664fs
2 papers
NM_001127208.3
p.Q557fs
c.1669_1670fs
7 papers
NM_001127208.3
p.Q557*
c.1669C>T
1 paper
NM_001127208.3
p.P555S
c.1663C>T
1 paper
NM_001127208.3
p.Q557_Y559delFs
c.1670_1676del7
2 papers
NM_001127208.3
p.P555fs
c.1663_1664fs
1 paper
NM_001127208.3
p.Q557_H558delFs
c.1671_1672delGC
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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."