Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1483*

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
7 papers
NM_001127208.3
p.E1483*
c.4447G>T
Surrounding Variants
1 paper
NM_001127208.3
p.E1483fs
c.4447_4448fs
1 paper
NM_001127208.3
p.E1483G
c.4448A>G
1 paper
NM_001127208.3
p.N1484delFs
c.4451delA
1 paper
NM_001127208.3
p.N1484fs
c.4450_4451fs
1 paper
NM_001127208.3
p.N1484fs
c.4450_4451fs
2 papers
NM_001127208.3
p.L1482fs
c.4444_4445fs
1 paper
NM_001127208.3
p.N1484delFs
c.4452delC
1 paper
NM_001127208.3
p.N1484K
c.4452C>A
1 paper
NM_001127208.3
p.N1484K
c.4452C>G
1 paper
NM_001127208.3
p.S1485delFs
c.4453delA
2 papers
NM_001127208.3
p.S1481fs
c.4441_4442fs
1 paper
NM_001127208.3
p.L1482delFs
c.4444delC
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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."