Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G453S

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.G453S
c.1357G>A
Surrounding Variants
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
4 papers
NM_001127208.3
p.E452A
c.1355A>C
3 papers
NM_001127208.3
p.K454*
c.1360A>T
1 paper
NM_001127208.3
p.K454fs
c.1360_1361fs
2 papers
NM_001127208.3
p.E452fs
c.1354_1355fs
5 papers
NM_001127208.3
p.E452*
c.1354G>T
2 papers
NM_001127208.3
p.E452fs
c.1354_1355fs
1 paper
NM_001127208.3
p.I451_E452insFs
c.1353_1354insT
1 paper
NM_001127208.3
p.K454T
c.1361A>C
1 paper
NM_001127208.3
p.E452del1
c.1354_1355delGAG
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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."