Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N483insFs

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.N483insFs
c.1448dupA
Surrounding Variants
1 paper
NM_001127208.3
p.N482K
c.1446T>G
1 paper
NM_001127208.3
p.N483fs
c.1447_1448fs
1 paper
NM_001127208.3
p.N482S
c.1445A>G
1 paper
NM_001127208.3
p.N483_C484delFs
c.1448_1452del5
1 paper
NM_001127208.3
p.N482fs
c.1444_1445fs
1 paper
NM_001127208.3
p.N482_N483ins4
c.1444_1448ins12
1 paper
NM_001127208.3
p.N482H
c.1444A>C
1 paper
NM_001127208.3
p.V485delFs
c.1454_1455delTG
1 paper
NM_001127208.3
p.C484_V485insT
c.1450_1454ins3
2 papers
NM_001127208.3
p.C484fs
c.1450_1451fs
1 paper
NM_001127208.3
p.Q481fs
c.1441_1442fs
2 papers
NM_001127208.3
p.Q481_N482insT
c.1441_1445ins3
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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."