Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1851D

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.E1851D
c.5553G>T
Surrounding Variants
2 papers
NM_001127208.3
p.E1851D
c.5553G>C
1 paper
NM_001127208.3
p.S1853insFs
c.5557_5558dupAG
2 papers
NM_001127208.3
p.Q1852fs
c.5554_5555fs
11 papers
NM_001127208.3
p.Q1852*
c.5554C>T
1 paper
NM_001127208.3
p.Q1852delFs
c.5555delA
2 papers
NM_001127208.3
p.E1851K
c.5551G>A
1 paper
NM_001127208.3
p.E1851insFs
c.5551_5552insT
3 papers
NM_001127208.3
p.E1851*
c.5551G>T
1 paper
NM_001127208.3
p.E1851fs
c.5551_5552fs
1 paper
NM_001127208.3
p.S1853G
c.5557A>G
1 paper
NM_001127208.3
p.S1853fs
c.5557_5558fs
2 papers
NM_001127208.3
p.D1849E
c.5547C>A
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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."