Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1266D

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.N1266D
c.3796A>G
Surrounding Variants
1 paper
NM_001127208.3
p.N1266fs
c.3796_3797fs
2 papers
NM_001127208.3
p.N1266H
c.3796A>C
2 papers
NM_001127208.3
p.N1266Y
c.3796A>T
1 paper
NM_001127208.3
p.N1266fs
c.3796_3797fs
1 paper
NM_001127208.3
p.N1266T
c.3797A>C
4 papers
NM_001127208.3
p.N1266S
c.3797A>G
1 paper
NM_001127208.3
p.N1266I
c.3797A>T
2 papers
NM_001127208.3
p.N1266K
c.3798T>A
1 paper
NM_001127208.3
p.L1265*
c.3794T>A
2 papers
NM_001127208.3
p.N1266K
c.3798T>G
1 paper
NM_001127208.3
p.E1267K
c.3799G>A
1 paper
NM_001127208.3
p.E1267fs
c.3799_3800fs
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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."