Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D115E

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.D115E
c.345C>G
Surrounding Variants
1 paper
NM_001127208.3
p.D115E
c.345C>A
1 paper
NM_001127208.3
p.Q116delFs
c.346_347delCA
1 paper
NM_001127208.3
p.Q116del1
c.346_348delCAA
1 paper
NM_001127208.3
p.Q116delFs
c.346delC
5 papers
NM_001127208.3
p.Q116*
c.346C>T
1 paper
NM_001127208.3
p.K117delFs
c.350delA
1 paper
NM_001127208.3
p.Q116L
c.347A>T
1 paper
NM_001127208.3
p.D115N
c.343G>A
1 paper
NM_001127208.3
p.Q114H
c.342A>C
1 paper
NM_001127208.3
p.Q114H
c.342A>T
1 paper
NM_001127208.3
p.Q114P
c.341A>C
3 papers
NM_001127208.3
p.K117E
c.349A>G
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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."