Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E283D

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.E283D
c.849G>C
Surrounding Variants
1 paper
NM_001127208.3
p.E283D
c.849G>T
4 papers
NM_001127208.3
p.E283*
c.847G>T
1 paper
NM_001127208.3
p.L284P
c.851T>C
1 paper
NM_001127208.3
p.L284R
c.851T>G
1 paper
NM_001127208.3
p.L284L
c.852G>T
1 paper
NM_001127208.3
p.E283del1
c.847_848delGAG
1 paper
NM_001127208.3
p.P285fs
c.853_854fs
1 paper
NM_001127208.3
p.P285A
c.853C>G
2 papers
NM_001127208.3
p.S282F
c.845C>T
2 papers
NM_001127208.3
p.S282fs
c.844_845fs
6 papers
NM_001127208.3
p.S282delFs
c.845_846delCT
1 paper
NM_001127208.3
p.P286insFs
c.856_857insA
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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."