Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1799K

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.K1799K
c.5397G>A
Surrounding Variants
1 paper
NM_001127208.3
p.M1800insFs
c.5398dupA
1 paper
NM_001127208.3
p.M1800fs
c.5398_5399fs
1 paper
NM_001127208.3
p.M1800insFs
c.5399_5400insT
1 paper
NM_001127208.3
p.K1799T
c.5396A>C
3 papers
NM_001127208.3
p.K1799R
c.5396A>G
3 papers
NM_001127208.3
p.M1800fs
c.5398_5399fs
1 paper
NM_001127208.3
p.K1799*
c.5395A>T
1 paper
NM_001127208.3
p.K1799fs
c.5395_5396fs
1 paper
NM_001127208.3
p.M1800insFs
c.5399_5400insA
5 papers
NM_001127208.3
p.S1798*
c.5393C>A
1 paper
NM_001127208.3
p.K1799insFs
c.5396dupA
6 papers
NM_001127208.3
p.S1798*
c.5393C>G
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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."