Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K117N

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
4 papers
NM_001127208.3
p.K117N
c.351G>T
Surrounding Variants
1 paper
NM_001127208.3
p.K117K
c.351G>A
4 papers
NM_001127208.3
p.K117N
c.351G>C
1 paper
NM_001127208.3
p.A118insFs
c.353_354ins5
1 paper
NM_001127208.3
p.K117R
c.350A>G
1 paper
NM_001127208.3
p.A118delFs
c.352delG
1 paper
NM_001127208.3
p.A118fs
c.352_353fs
1 paper
NM_001127208.3
p.A118fs
c.352_353fs
3 papers
NM_001127208.3
p.K117E
c.349A>G
1 paper
NM_001127208.3
p.A118G
c.353C>G
1 paper
NM_001127208.3
p.N119D
c.355A>G
1 paper
NM_001127208.3
p.Q116L
c.347A>T
3 papers
NM_001127208.3
p.N119S
c.356A>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."