Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1693_G1697del5

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.Y1693_G1697del5
c.5077_5090del15
Surrounding Variants
1 paper
NM_001127208.3
p.K1692N
c.5076A>C
1 paper
NM_001127208.3
p.K1692*
c.5074A>T
1 paper
NM_001127208.3
p.K1692N
c.5076A>T
1 paper
NM_001127208.3
p.K1692fs
c.5074_5075fs
1 paper
NM_001127208.3
p.Y1693_L1694delFs
c.5079_5082del4
1 paper
NM_001127208.3
p.Y1693N
c.5077T>A
1 paper
NM_001127208.3
p.Y1693fs
c.5077_5078fs
1 paper
NM_001127208.3
p.S1691insFs
c.5072_5073insTA
3 papers
NM_001127208.3
p.Y1693*
c.5079C>A
3 papers
NM_001127208.3
p.Y1693*
c.5079C>G
1 paper
NM_001127208.3
p.L1694delFs
c.5081delT
3 papers
NM_001127208.3
p.S1691fs
c.5071_5072fs
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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."