Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E452*

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
5 papers
NM_001127208.3
p.E452*
c.1354G>T
Surrounding Variants
2 papers
NM_001127208.3
p.E452fs
c.1354_1355fs
2 papers
NM_001127208.3
p.E452fs
c.1354_1355fs
1 paper
NM_001127208.3
p.I451_E452insFs
c.1353_1354insT
4 papers
NM_001127208.3
p.E452A
c.1355A>C
1 paper
NM_001127208.3
p.E452del1
c.1354_1355delGAG
1 paper
NM_001127208.3
p.E452_G453del2
c.1354_1358del6
2 papers
NM_001127208.3
p.G453S
c.1357G>A
1 paper
NM_001127208.3
p.G453_P455delFs
c.1358_1365del8
1 paper
NM_001127208.3
p.G453A
c.1358G>C
1 paper
NM_001127208.3
p.G453delFs
c.1359delT
1 paper
NM_001127208.3
p.K450fs
c.1348_1349fs
6 papers
NM_001127208.3
p.K450*
c.1348A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."