Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G563fs

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.G563fs
c.1687_1688fs
Surrounding Variants
1 paper
NM_001127208.3
p.G563*
c.1687G>T
1 paper
NM_001127208.3
p.G563fs
c.1687_1688fs
1 paper
NM_001127208.3
p.G563G
c.1689A>C
1 paper
NM_001127208.3
p.P562fs
c.1684_1685fs
3 papers
NM_001127208.3
p.P562A
c.1684C>G
4 papers
NM_001127208.3
p.P562fs
c.1684_1685fs
1 paper
NM_001127208.3
p.P562delFs
c.1685delC
11 papers
NM_001127208.3
p.W564*
c.1691G>A
1 paper
NM_001127208.3
p.W564L
c.1691G>T
12 papers
NM_001127208.3
p.W564*
c.1692G>A
1 paper
NM_001127208.3
p.I565insFs
c.1693dupA
5 papers
NM_001127208.3
p.L567_K568delFs
c.1699_1703del5
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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."