Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1589C

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
4 papers
NM_001127208.3
p.Y1589C
c.4766A>G
Surrounding Variants
3 papers
NM_001127208.3
p.Y1589*
c.4767T>A
3 papers
NM_001127208.3
p.Y1589*
c.4767T>G
2 papers
NM_001127208.3
p.Y1589fs
c.4765_4766fs
1 paper
NM_001127208.3
p.I1588M
c.4764C>G
1 paper
NM_001127208.3
p.I1588fs
c.4762_4763fs
1 paper
NM_001127208.3
p.I1588insFs
c.4762dupA
1 paper
NM_001127208.3
p.D1587_I1588insFs
c.4761_4762ins4
2 papers
NM_001127208.3
p.D1587insFs
c.4761dupT
2 papers
NM_001127208.3
p.D1587G
c.4760A>G
2 papers
NM_001127208.3
p.T1592insFs
c.4774dupA
2 papers
NM_001127208.3
p.D1587N
c.4759G>A
1 paper
NM_001127208.3
p.D1587insFs
c.4760_4761insA
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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."