Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1664*

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.Q1664*
c.4990C>T
Surrounding Variants
1 paper
NM_001127208.3
p.D1665_P1666del2
c.4993_4997del6
1 paper
NM_001127208.3
p.S1663fs
c.4987_4988fs
1 paper
NM_001127208.3
p.P1662S
c.4984C>T
5 papers
NM_001127208.3
p.Y1661*
c.4983T>A
5 papers
NM_001127208.3
p.Y1661*
c.4983T>G
1 paper
NM_001127208.3
p.L1667_L1672delFs
c.4999_5014del16
3 papers
NM_001127208.3
p.L1667fs
c.4999_5000fs
1 paper
NM_001127208.3
p.L1667insFs
c.5000dupT
1 paper
NM_001127208.3
p.L1667delFs
c.5000delT
2 papers
NM_001127208.3
p.L1667fs
c.4999_5000fs
1 paper
NM_001127208.3
p.Y1661N
c.4981T>A
1 paper
NM_001127208.3
p.L1667insFs
c.5000_5001ins11
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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."