Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E157A

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.E157A
c.470A>C
Surrounding Variants
4 papers
NM_001127208.3
p.E157G
c.470A>G
4 papers
NM_001127208.3
p.E157K
c.469G>A
1 paper
NM_001127208.3
p.N158insFs
c.473dupA
1 paper
NM_001127208.3
p.E157fs
c.469_470fs
1 paper
NM_001127208.3
p.E157insFs
c.469_470ins16
1 paper
NM_001127208.3
p.E157*
c.469G>T
2 papers
NM_001127208.3
p.N158delFs
c.473delA
1 paper
NM_001127208.3
p.N158delFs
c.472_473delAA
2 papers
NM_001127208.3
p.N158fs
c.472_473fs
1 paper
NM_001127208.3
p.Q156R
c.467A>G
1 paper
NM_001127208.3
p.Q156insFs
c.468dupA
1 paper
NM_001127208.3
p.Q156fs
c.466_467fs
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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."