Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1488fs

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.K1488fs
c.4462_4463fs
Surrounding Variants
1 paper
NM_001127208.3
p.K1488*
c.4462A>T
4 papers
NM_001127208.3
p.N1489delFs
c.4466delA
3 papers
NM_001127208.3
p.N1489fs
c.4465_4466fs
1 paper
NM_001127208.3
p.N1487fs
c.4459_4460fs
3 papers
NM_001127208.3
p.N1489fs
c.4465_4466fs
1 paper
NM_001127208.3
p.N1487fs
c.4459_4460fs
21 papers
NM_001127208.3
p.S1486*
c.4457C>A
22 papers
NM_001127208.3
p.S1486*
c.4457C>G
1 paper
NM_001127208.3
p.N1487delFs
c.4460delA
3 papers
NM_001127208.3
p.E1492_K1493del0
c.4474_4479del6
2 papers
NM_001127208.3
p.E1490fs
c.4468_4469fs
4 papers
NM_001127208.3
p.E1490*
c.4468G>T
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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."