Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1724*

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.Y1724*
c.5172T>A
Surrounding Variants
2 papers
NM_001127208.3
p.Y1724*
c.5172T>G
2 papers
NM_001127208.3
p.Y1724insFs
c.5171_5172insT
1 paper
NM_001127208.3
p.P1725fs
c.5173_5174fs
1 paper
NM_001127208.3
p.P1725fs
c.5173_5174fs
1 paper
NM_001127208.3
p.T1726S
c.5176A>T
2 papers
NM_001127208.3
p.T1726fs
c.5176_5177fs
1 paper
NM_001127208.3
p.P1723L
c.5168C>T
1 paper
NM_001127208.3
p.T1726S
c.5177C>G
37 papers
NM_001127208.3
p.P1723S
c.5167C>T
2 papers
NM_001127208.3
p.T1726delFs
c.5178delT
2 papers
NM_001127208.3
p.H1727fs
c.5179_5180fs
1 paper
NM_001127208.3
p.H1727delFs
c.5180_5181delAT
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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."