Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1775N

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.S1775N
c.5324G>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1777insFs
c.5329_5330dupCT
1 paper
NM_001127208.3
p.S1775fs
c.5323_5324fs
1 paper
NM_001127208.3
p.S1776delFs
c.5326delT
3 papers
NM_001127208.3
p.S1776fs
c.5326_5327fs
2 papers
NM_001127208.3
p.N1774S
c.5321A>G
1 paper
NM_001127208.3
p.S1776F
c.5327C>T
1 paper
NM_001127208.3
p.N1774fs
c.5320_5321fs
2 papers
NM_001127208.3
p.N1774fs
c.5320_5321fs
2 papers
NM_001127208.3
p.F1773L
c.5319C>A
1 paper
NM_001127208.3
p.L1777fs
c.5329_5330fs
1 paper
NM_001127208.3
p.L1777_H1778insG
c.5329_5333ins3
2 papers
NM_001127208.3
p.L1777insFs
c.5330dupT
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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."