Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S521fs

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.S521fs
c.1561_1562fs
Surrounding Variants
2 papers
NM_001127208.3
p.S521N
c.1562G>A
1 paper
NM_001127208.3
p.S521delFs
c.1561delA
1 paper
NM_001127208.3
p.G523_L532delFs
c.1567_1594del28
1 paper
NM_001127208.3
p.S522del1
c.1564_1566delAGT
1 paper
NM_001127208.3
p.S522_G523delFs
c.1564_1567del4
1 paper
NM_001127208.3
p.G520D
c.1559G>A
1 paper
NM_001127208.3
p.G520insFs
c.1560dupT
1 paper
NM_001127208.3
p.S522fs
c.1564_1565fs
1 paper
NM_001127208.3
p.S522R
c.1564A>C
1 paper
NM_001127208.3
p.S522G
c.1564A>G
1 paper
NM_001127208.3
p.G520S
c.1558G>A
1 paper
NM_001127208.3
p.G520fs
c.1558_1559fs
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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."