Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T1690I

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.T1690I
c.5069C>T
Surrounding Variants
1 paper
NM_001127208.3
p.T1690P
c.5068A>C
1 paper
NM_001127208.3
p.T1690S
c.5068A>T
1 paper
NM_001127208.3
p.S1691delFs
c.5071delT
3 papers
NM_001127208.3
p.S1691fs
c.5071_5072fs
1 paper
NM_001127208.3
p.S1691delFs
c.5072delC
1 paper
NM_001127208.3
p.S1691fs
c.5071_5072fs
1 paper
NM_001127208.3
p.S1691insFs
c.5072_5073insTA
1 paper
NM_001127208.3
p.F1689fs
c.5065_5066fs
1 paper
NM_001127208.3
p.F1689fs
c.5065_5066fs
1 paper
NM_001127208.3
p.K1692*
c.5074A>T
1 paper
NM_001127208.3
p.K1692fs
c.5074_5075fs
2 papers
NM_001127208.3
p.Y1693_G1697del5
c.5077_5090del15
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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."