Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R571C

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
3 papers
NM_001127208.3
p.R571C
c.1711C>T
Surrounding Variants
10 papers
NM_001127208.3
p.R571H
c.1712G>A
1 paper
NM_001127208.3
p.R571L
c.1712G>T
1 paper
NM_001127208.3
p.A569V
c.1706C>T
1 paper
NM_001127208.3
p.H573delFs
c.1718_1719delAC
1 paper
NM_001127208.3
p.H573fs
c.1717_1718fs
1 paper
NM_001127208.3
p.H573Y
c.1717C>T
1 paper
NM_001127208.3
p.A569fs
c.1705_1706fs
2 papers
NM_001127208.3
p.Q574delFs
c.1720delC
1 paper
NM_001127208.3
p.K568R
c.1703A>G
1 paper
NM_001127208.3
p.K568delFs
c.1704delG
1 paper
NM_001127208.3
p.H573Q
c.1719C>G
1 paper
NM_001127208.3
p.K568*
c.1702A>T
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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."