Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E219*

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.E219*
c.655G>T
Surrounding Variants
3 papers
NM_001127208.3
p.E219fs
c.655_656fs
1 paper
NM_001127208.3
p.H222delFs
c.664_665delCA
1 paper
NM_001127208.3
p.E219delFs
c.655delG
2 papers
NM_001127208.3
p.H220_T221insAG
c.658_662ins6
1 paper
NM_001127208.3
p.H220_T221Fs
c.658_663delinsGAACTTCFs
46 papers
NM_001127208.3
p.V218M
c.652G>A
1 paper
NM_001127208.3
p.V218L
c.652G>C
4 papers
NM_001127208.3
p.V218fs
c.652_653fs
1 paper
NM_001127208.3
p.V218L
c.652G>T
8 papers
NM_001127208.3
p.V218fs
c.652_653fs
2 papers
NM_001127208.3
p.H220R
c.659A>G
1 paper
NM_001127208.3
p.V218delFs
c.652delG
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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."