Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q654K

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.Q654K
c.1960C>A
Surrounding Variants
1 paper
NM_001127208.3
p.K655insFs
c.1965dupA
1 paper
NM_001127208.3
p.Q654insFs
c.1960_1961insG
2 papers
NM_001127208.3
p.Q654fs
c.1960_1961fs
8 papers
NM_001127208.3
p.Q654*
c.1960C>T
1 paper
NM_001127208.3
p.K655delFs
c.1965delA
2 papers
NM_001127208.3
p.Q654fs
c.1960_1961fs
2 papers
NM_001127208.3
p.F653delFs
c.1959delC
2 papers
NM_001127208.3
p.K655fs
c.1963_1964fs
4 papers
NM_001127208.3
p.F653fs
c.1957_1958fs
1 paper
NM_001127208.3
p.P656delFs
c.1968delC
3 papers
NM_001127208.3
p.P656fs
c.1966_1967fs
2 papers
NM_001127208.3
p.Q652fs
c.1954_1955fs
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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."