Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1598*

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
3 papers
NM_001127208.3
p.Y1598*
c.4794T>A
Surrounding Variants
3 papers
NM_001127208.3
p.Y1598*
c.4794T>G
1 paper
NM_001127208.3
p.Y1598C
c.4793A>G
1 paper
NM_001127208.3
p.S1599delFs
c.4795delT
3 papers
NM_001127208.3
p.S1599fs
c.4795_4796fs
1 paper
NM_001127208.3
p.S1599delFs
c.4797delC
1 paper
NM_001127208.3
p.Y1598fs
c.4792_4793fs
2 papers
NM_001127208.3
p.Y1598delFs
c.4793delA
3 papers
NM_001127208.3
p.Y1598fs
c.4792_4793fs
1 paper
NM_001127208.3
p.T1600fs
c.4798_4799fs
2 papers
NM_001127208.3
p.F1597delFs
c.4791delC
1 paper
NM_001127208.3
p.S1602_Q1603delFs
c.4804_4808del5
1 paper
NM_001127208.3
p.F1597fs
c.4789_4790fs
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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."