Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1495_P1496ins5

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.A1495_P1496ins5
c.4483_4487ins15
Surrounding Variants
1 paper
NM_001127208.3
p.A1495T
c.4483G>A
1 paper
NM_001127208.3
p.A1495_P1496insG
c.4483_4487ins3
1 paper
NM_001127208.3
p.A1495V
c.4484C>T
7 papers
NM_001127208.3
p.S1494*
c.4481C>A
7 papers
NM_001127208.3
p.S1494*
c.4481C>G
1 paper
NM_001127208.3
p.P1496L
c.4487C>T
1 paper
NM_001127208.3
p.K1493R
c.4478A>G
1 paper
NM_001127208.3
p.K1493fs
c.4477_4478fs
1 paper
NM_001127208.3
p.K1493*
c.4477A>T
1 paper
NM_001127208.3
p.K1493fs
c.4477_4478fs
3 papers
NM_001127208.3
p.S1497P
c.4489T>C
6 papers
NM_001127208.3
p.S1497*
c.4490C>A
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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."