Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T245_T246ins5

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.T245_T246ins5
c.733_737ins15
Surrounding Variants
1 paper
NM_001127208.3
p.T245fs
c.733_734fs
1 paper
NM_001127208.3
p.K244_T245insFs
c.732_733insG
1 paper
NM_001127208.3
p.T246insFs
c.736dupA
2 papers
NM_001127208.3
p.T246fs
c.736_737fs
1 paper
NM_001127208.3
p.T246P
c.736A>C
2 papers
NM_001127208.3
p.K244*
c.730A>T
1 paper
NM_001127208.3
p.T246S
c.736A>T
1 paper
NM_001127208.3
p.T246fs
c.736_737fs
1 paper
NM_001127208.3
p.T246_T257delFs
c.737_771del35
1 paper
NM_001127208.3
p.T246insFs
c.738dupA
3 papers
NM_001127208.3
p.T246I
c.737C>T
1 paper
NM_001127208.3
p.T246delFs
c.738delA
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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."