Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K318N

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.K318N
c.954A>C
Surrounding Variants
1 paper
NM_001127208.3
p.K318N
c.954A>T
1 paper
NM_001127208.3
p.P319delFs
c.956delC
1 paper
NM_001127208.3
p.K318R
c.953A>G
1 paper
NM_001127208.3
p.P319T
c.955C>A
1 paper
NM_001127208.3
p.P319insFs
c.955_956insA
3 papers
NM_001127208.3
p.P319fs
c.955_956fs
1 paper
NM_001127208.3
p.P319insFs
c.955_956insT
2 papers
NM_001127208.3
p.P319S
c.955C>T
1 paper
NM_001127208.3
p.P319fs
c.955_956fs
1 paper
NM_001127208.3
p.K318fs
c.952_953fs
1 paper
NM_001127208.3
p.E320_Q321delFs
c.958_961del4
2 papers
NM_001127208.3
p.Q317H
c.951G>C
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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."